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1.
Massa G Jaenen N de Varebeke SJ Peeters N Wuyts W 《European journal of pediatrics》2003,162(10):674-677
Thyroid nodules are a rare occurrence in children but represent an important clinical problem because of the possibility of malignancy. We report the case of a 4-year-old boy with sensorineural deafness, who presented with a painless mass in the right anterior cervical region. Cervical ultrasound demonstrated a solid nodule (1.4×2.5×1.7 cm) in the right thyroid lobe. Thyroid function tests revealed compensated hypothyroidism (free T4 1.0 ng/dl; TSH 57 mIU/l) with no detectable thyroid antibodies. A 99m Tc thyroid scan showed a generalised slightly increased tracer retention (4.6%) with an enlarged right lobe, without distinct nodules. A fine-needle aspiration biopsy revealed normal follicular cells. The boy was treated with l-thyroxine which resulted in a complete clinical and sonographical disappearance of the nodule. A CT scan of temporal bones revealed a bilaterally enlarged vestibular aqueduct with Mondini malformation of the cochlea. The combination of all these symptoms suggested the diagnosis of Pendred syndrome (PDS), a disorder characterised by congenital sensorineural hearing loss and a variable degree of thyromegaly due to mutations in the SLC26A4/PDS gene. DNA analysis disclosed a so far unreported homozygous splice site mutation (1002–4 C>G) in intron 8 of the SLC26A4 gene confirming this diagnosis. Conclusion: a solitary thyroid nodule may therefore be another presenting symptom of thyroid involvement in Pendred syndromeAbbreviation PDS Pendred syndrome 相似文献
2.
Kahrizi K Mohseni M Nishimura C Bazazzadegan N Fischer SM Dehghani A Sayfati M Taghdiri M Jamali P Smith RJ Azizi F Najmabadi H 《European journal of pediatrics》2009,168(6):651-653
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear
families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative
for mutations in GJB2 at the DFNB1 locus and were, therefore, screened for autozygosity by descent (ABD) using short tandem repeat polymorphisms (STRPs) that
flanked SLC26A4. In 12 families, homozygosity for STRPs suggested possible ABD in this genomic region. Affected individuals in five families
had a positive perchlorate discharge test. Sequence analysis of SLC26A4 identified ten mutations in eight families (T420I, 1197delT, G334V, R409H, T721M, R79X, S448L, L597S, 965insA and L445W),
of which, four are novel (T420I, G334V, 965insA and R79X). These results imply that Pendred syndrome is the most prevalent
form of syndromic hereditary hearing loss in Iran. 相似文献
3.
Zaidi SH Meyer S Peltekova VD Lindinger A Teebi AS Faiyaz-Ul-Haque M 《European journal of pediatrics》2009,168(7):867-870
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder in which patients display tortuosity of arteries
in addition to hyperextensible skin, joint laxity, and other connective tissue features. This syndrome is caused by mutations
in the SLC2A10 gene. In this article we describe an ATS girl of Kurdish origin who, in addition to arterial tortuosity and connective tissue
features, displays stomach displacement within the thorax and bilateral hip dislocation. Clinical details of this patient
have been reported previously. Sequencing of the SLC2A10 gene identified a novel homozygous non-sense c.756C>A mutation in this patient’s DNA. This mutation in the SLC2A10 gene replaces a cysteine encoding codon with a stop signal. This is believed to cause a premature truncation of GLUT10 protein
in this patient. We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility,
joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene. 相似文献
4.
3例Fanconi-Bickel综合征SLC2A2基因分析 总被引:1,自引:1,他引:0
Fanconi-Bickel 综合征(FBS, OMIM 227810)是一种常染色体隐性遗传的罕见糖代谢异常疾病,致病基因为SLC2A2。该文报道3 例经SLC2A2 基因分析确诊的FBS 病例。3 例患儿表现为典型的糖原累积症及近端肾小管功能障碍表现。基因测序显示1 例为纯合剪接突变IVS8+5G>C(c.1068+5 G>C);1 例为纯合无义突变c.1194T>A(p.Tyr398X);1 例为错义突变c.380C>A(p.Ala127Asp)和重复突变c.970dupT(p.324TyrfsX392),其中c.970dupT(p.324TyrfsX392)非经父母遗传,为新生突变。该4 种突变中,除IVS8+5G>C 外,其余3 种为中国人种FBS 新突变,而c.970dupT(p.324TyrfsX392)可能为世界首例FBS 新生突变报道。 相似文献
5.
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies 总被引:6,自引:0,他引:6
Fugazzola L Cerutti N Mannavola D Crino A Cassio A Gasparoni P Vannucchi G Beck-Peccoz P 《Pediatric research》2002,51(4):479-484
The disease gene for Pendred syndrome has been recently characterized and named PDS. It codes for a transmembrane protein called pendrin, which is highly expressed at the apical surface of the thyroid cell and functions as a transporter of chloride and iodide. Pendrin is also expressed at the inner ear level, where it appears to be involved in the maintenance of the endolymph homeostasis in the membranous labyrinth, and in the kidney, where it mediates chloride-formate exchange and bicarbonate secretion. Mutations in the PDS gene and the consequent impaired function of pendrin leads to the classic phenotype of Pendred syndrome, i.e. dyshormonogenic goiter and congenital sensorineural hearing loss. In the present study, we performed a detailed clinical, radiologic, and molecular analysis of six families presenting with clinical diagnosis of Pendred syndrome. In two families a homozygous pattern for PDS mutations was found, whereas the affected members of the other four families were compound heterozygotes. One family did not harbor PDS mutations. Among the four novel mutations described, one is a transversion in exon 2 (84C>A), leading to the substitution S28R. Two other novel mutations lie in exon 4 (398T>A) and in exon 16 (1790T>C), leading to the substitutions S133T and L597S, respectively. The fourth novel mutation (1614+1G>A) is located in the first base pair of intron 14, probably affecting the splicing of the PDS gene. Clinically, all patients had goiter with positive perchlorate test, hypothyroidism, and severe or profound sensorineural hearing loss. In all the individuals harboring PDS mutations, but not in the family without PDS mutations, inner ear malformations, such as enlargement of the vestibular aqueduct and of the endolymphatic duct and sac, were documented. The pseudo-Pendred phenotype exhibited by the family without PDS mutations is likely caused by an autoimmune thyroid disease associated with a sensorineural hearing loss of different origin. 相似文献
6.
Lo FS Lin JL Kuo MT Chiu PC Shu SG Chao MC Lee YJ Lin SP 《European journal of pediatrics》2009,168(8):919-923
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous
syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for mutation of the KRAS gene in 57 unrelated ethnic Chinese children suffering from Noonan syndrome without PTPN11 gene mutation in Taiwan. This work only identified two patients with different missense mutations (c.40G>A, p.Val14Ile; c.108A>G,
p.Ile36Met) in the exon 1 of KRAS gene. This study also analyzed the characteristics of 34 reported cases involving KRAS mutations in the literature. All these patients presented with variable phenotypes, including Noonan syndrome (n = 19), cardio-facio-cutaneous syndrome (n = 7), Costello syndrome (n = 6), and Noonan/cardio-facio-cutaneous syndrome (n = 1). The phenotype of KRAS mutations was generally severe, including short stature, mental retardation, heart defects, etc. In conclusion, this investigation
demonstrates that KRAS mutations are the cause in a minority of cases of Chinese patients with Noonan syndrome in Taiwan. 相似文献
7.
Jeana Hong Jeong Kee Seo Jae Sung Ko Hae Il Cheong Jung-Hwan Choi Jae Hee Lee Jeong Wan Seo 《European journal of pediatrics》2013,172(4):545-550
Congenital chloride diarrhea (CLD, OMIM#214700) is an autosomal recessive disorder caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal chloride/bicarbonate exchanger. While more than 50 mutations have been identified throughout the world, there have been no data on the genetic characteristics of the patients of East Asian ethnic origin. In this study, we performed genetic analysis by direct sequencing of the 20 exons and parts of exon–intron boundaries of the SLC26A3 gene in eight patients of Korean origin with non-consanguineous parents. We identified three novel mutations, including two splice-site mutations (c.2063-1G>T in intron 18, c.1047+3 A>C in intron 12) and one missense mutation (p.Ser134Asn in exon 5). One previously identified mutation was also found (p.Pro131Leu in exon 5). The most common mutation was c.2063-1G>T, which was found in at least one allele of all patients. Conclusion: This is the first report to demonstrate the genetic background of CLD in a single ethnic group of East Asian descent. The c.2063-1G>T mutation could be suggested as a founder mutation in Korean population so that the targeting sequencing for the mutation would be a cost-efficient screening method to confirm a diagnosis of CLD in patients of Korean descent. 相似文献
8.
First 2 cases with thiamine‐responsive megaloblastic anemia in the Czech Republic,a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene—intron 1 mutation c.204+2T>G
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Renata Pomahačová Jana Zamboryová Josef Sýkora Petra Paterová Karel Fiklík Tomáš Votava Zdeňka Černá Petr Jehlička Václav Lád Ivan Šubrt Jiří Dort Eva Dortová 《Pediatric diabetes》2017,18(8):844-847
Thiamine‐responsive megaloblastic anemia (TRMA) is a rare autosomal recessive disorder caused by mutations in the SLC19A2 gene. To date at least 43 mutations have been reported for the gene encoding a plasma membrane thiamine transporter protein (THTR‐1). TRMA has been reported in less than 80 cases worldwide. Here, we illustrate 2 female patients with TRMA first diagnosed in the Czech Republic and in central Europe being confirmed by sequencing of the THTR‐1 gene SLC19A2. Both subjects are compound heterozygotes with 3 different mutations in the SLC19A2 gene. In case 2, the SLC19A2 intron 1 mutation c.204+2T>G has never been reported before. TRMA subjects are at risk of diabetic ketoacidosis during intercurrent disease and arrythmias. Thiamine supplementation has prevented hematological disorders over a few years in both pediatric subjects, and improved glycaemic control of diabetes mellitus. Patient 1 was suffering from hearing loss and rod‐cone dystrophy at the time of diagnosis, however, she was unresponsive to thiamine substitution. Our patient 2 developed the hearing loss despite the early thiamine substitution, however no visual disorder had developed. The novel mutation described here extends the list of SLC19A2 mutations causing TRMA. 相似文献
9.
FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation,polyendocrinopathy, enteropathy,X‐linked syndrome
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Jessica L Hwang Soo‐Young Park Honggang Ye May Sanyoura Ashley N Pastore David Carmody Daniela del Gaudio Janna F Wilson Craig L Hanis Xiaoming Liu Gil Atzmon Benjamin Glaser Louis H Philipson Siri Atma W Greeley TD‐Genes Consortium 《Pediatric diabetes》2018,19(3):388-392
10.
Nithiwat Vatanavicharn Somporn Liammongkolkul Osamu Sakamoto Mahattana Kamolsilp Achara Sathienkijkanchai Pornswan Wasant 《World journal of pediatrics : WJP》2014,10(1):64-68
Background
Propionic acidemia (PA) is caused by a deficiency of propionyl CoA carboxylase. A characteristic urine organic acid profile includes 3-hydroxypropionate, methylcitrate, tiglylglycine, and propionylglycine. The diagnosis of PA is confirmed by detection of mutations in the PCCA or PCCB genes. We herein report the clinical and molecular findings of four Thai patients with PA.Methods
Clinical findings of four Thai patients with PA were retrospectively reviewed. Urine organic acids were analyzed by gas chromatography-mass spectrometry. PCR-sequencing analyses of encoding exons and intron/exon boundaries of the PCCA and PCCB genes were performed.Results
All patients had neonatal onset of PA. One patient died of cardiomyopathy, and another one of pneumonia and metabolic decompensation. The remainder experienced significant neurocognitive impairment. Mutation analysis of the PCCA gene identified homozygous c.1284+1G>A in patient 1, c.230G>A (p.R77Q) and c.1855C>T (p.R619X) in patient 2, homozygous c.2125T>C (p.S709P) in patient 3, and only one mutant allele, c.231+1G>T in patient 4. No PCCB mutation was identified. Four mutations including c.230G>A, c.231+1G>T, c.1855C>T, and c.2125T>C have not been reported previously.Conclusions
The clinical and molecular study of these Thai patients provided additional knowledge of the genotype and phenotype characteristics of PA. The results of the study suggested that PCCA mutations in Asian populations were distinct from those of other populations. 相似文献11.
Bilateral cataracts in a 6‐yr‐old with new onset diabetes: a novel presentation of a known INS gene mutation
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Halley Wasserman Robert B. Hufnagel Virginia Miraldi Utz Kejian Zhang C. Alexander Valencia Nancy D. Leslie Nancy A. Crimmins 《Pediatric diabetes》2016,17(7):535-539
The prevalence of diabetes‐related cataracts during childhood is less than 1%. When cataracts occur, it is often in adolescent females with prolonged symptoms and significant hyperglycemia. Cataracts are not a classic feature of monogenic diabetes. We report a case of a 6‐yr‐old, previously healthy Caucasian male, who presented with bilateral acquired cataracts and was subsequently diagnosed with new onset diabetes. Additional symptoms at presentation included a several year history of polyuria and polydipsia, mild hepatomegaly, and short stature. Pertinent negatives include acanthosis nigricans, lipoatrophy, deafness, muscle weakness, or neuropathy. HbA1c was significantly elevated at diagnosis (>14%, 129.5 mmol/mol) without evidence of ketosis. Autoantibody testing was negative. Features of Mauriac syndrome (short stature, hepatomegaly) as well as acquired cataracts indicated long‐standing hyperglycemia with sufficient insulin production to prevent ketone production and development of diabetic ketoacidosis. Whole exome sequencing was conducted and a de novo heterozygous mutation in the INS gene (c.94G>A; p.Gly32Ser) was identified. INS gene mutations are common causes of permanent neonatal diabetes but rare causes of antibody‐negative diabetes in children. Importantly, INS gene mutations have not been previously associated with acquired cataracts. Knowledge of a monogenic cause of diabetes allows clinicians to tailor counseling and screening of diabetes‐related comorbidities. In summary, this case highlights the need to consider testing for monogenic diabetes, specifically INS gene mutations, in pediatric patients with antibody‐negative diabetes, especially if complications of prolonged hyperglycemia are present at diagnosis. 相似文献
12.
Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C
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Kazushi Ichikawa Keita Numasawa Saoko Takeshita Akihiro Hashiguchi Hiroshi Takashima 《Pediatrics international》2016,58(11):1252-1254
Charcot‐Marie‐Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10‐year‐old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22.3 m/s in the tibial nerve to 48.2 m/s in the median nerve. Sensory nerve conduction velocity ranged from 30.3 m/s in the sural nerve to 52.8 m/s in the median nerve. Sequence analysis of candidate genes identified two novel heterozygous mutations, c.229C>T and c.2775G>A, in SH3TC2. The patient was diagnosed as having CMT4C with novel mutations, making this the first documented Japanese pediatric case. 相似文献
13.
Introduction An ovarian Sertoli cell tumour was detected in a 4-year-old girl with gonadotrophin-independent precocious puberty. Such gonadal
tumours can be associated with Peutz-Jeghers syndrome, caused by mutations in the STK11 gene. We have therefore sequenced the STK11 gene.
Results Mutation analysis revealed a nonsense mutation in exon 1 (c.130A>T;p.Lys44X) of the SKT11 gene, which resulted in a truncated, inactive protein. The mutation was heterozygous in patient’s lymphocytes and almost
homozygous in the tumour, indicating loss of heterozygosity.
Conclusion This is the first report of a STK11 germline mutation in a girl with an ovarian Sertoli cell tumour. It remains to be shown whether this particular mutation
predisposes the patient to the development of ovarian tumours. 相似文献
14.
Denys–Drash syndrome (DDS) is a rare genetic disorder featuring the triad of Wilms' tumor, early-onset renal failure, and
46, XY disorder of sex development. DDS is usually caused by heterozygous missense mutations in the zinc-finger region of
the WT1 gene. The most frequent constitutional WT1 mutations in DDS patients are missense mutations in exons 8 and 9. We present a new case of variable DDS in a child who was
found to have a novel heterozygous missense mutation in exon 7 (c.905G>T) and a splicing mutation in exon 6 (IVS6-1G>T). 相似文献
15.
A novel missense mutation in the EVC gene underlies Ellis‐van Creveld syndrome in a Pakistani family
Background: Ellis‐van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by skeletal, ectodermal and cardiac defects. This syndrome is caused by mutations in EVC and EVC2 genes, which are separated by 2.6 kb of genomic sequence on chromosome 4p16. Methods: In the present study we ascertained a four‐generation pedigree of Pakistani origin with features of EVC. Linkage was searched by genotyping microsatellite markers linked to chromosome 4p16. Affected individuals showed homozygosity to the microsatellite markers tightly linked to EVC and EVC2 genes on chromosome 4p16. It was then subjected to direct sequencing of the EVC and EVC2 genes. Results: Mutation analysis of the EVC and EVC2 genes identified a novel missense change (c.617G>A; p.S206N) in the EVC gene. Conclusions: We herein report on the first family from Pakistan with a large number of individuals affected by EVC. DNA sequence analysis led to the identification of the fifth missense mutation in the EVC gene. 相似文献
16.
Monica Irad Normendez-Martínez Lucero Monterde-Cruz Roberto Martínez Magdalena Marquez-Harper Nayelli Esquitin-Garduño Margarita Valdes-Flores Leonora Casas-Avila Valeria Ponce de Leon-Suarez Viktor Javier Romero-Díaz Alberto Hidalgo-Bravo 《World journal of pediatrics : WJP》2018,14(3):298-304
Background
Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has identified mutations in the gene GAN in patients with this disorder. This gene produces a protein called gigaxonin which is presumably involved in protein degradation via the ubiquitin–proteasome system. However, the underlying molecular mechanism is not clearly understood yet.Methods
Here we present the first patient from Mexico with clinical data suggesting GAN. Sequencing of the GAN gene was carried out. Changes in the nucleotide sequence were investigated for their possible impact on protein function and structure using the publicly available prediction tools PolyPhen-2 and PANTHER.Results
The patient is a compound heterozygous carrying two novel mutations in the GAN gene. The sequence analysis revealed two missense mutations in the Kelch repeats domain. In one allele, a C>T transition was found in exon 9 at the nucleotide position 55393 (g.55393C>T). In the other allele, a transversion G>T in exon 11 at the nucleotide position 67471 (g.67471G>T) was observed. Both of the bioinformatic tools predicted that these amino acid substitutions would have a negative impact on gigaxonin’s function.Conclusion
This work provides useful information for health professionals and expands the spectrum of disease-causing mutations in the GAN gene and it is the first documented case in Mexican population.17.
Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare autosomal recessive disorder. Diagnosis is established in presence of genetic mutation or positive family history in one of the siblings. Common genetic mutations associated with FHL are mutations in gene PRF-1 (also known as FHL 2), UNC13D (FHL 3) and STX11 (FHL 4). Recently mutation in STXBP2 encoding syntaxin binding protein 2 (Munc 18 -2) has been found to be associated with FHL type 5. Here we describe the first reported Indian patient with homozygous mutation in STX BP2 gene (c1697 G>A resulting in amino acid change p.G566D) causing FHL 5. 相似文献
18.
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): Experience of the Victorian Neonatal Thyroid Screening Programme 总被引:2,自引:0,他引:2
Between 1977 and 1989, the Victorian Neonatal Thyroid Screening Programme detected five subjects with thyroid dyshormonogenesis and sensorineural deafness. These patients have been diagnosed as having Pendred syndrome. In two of the children, thyroid function tests which were initially abnormal at birth returned to normal spontaneously without treatment. However, hypothyroidism subsequently recurred and the children required thyroxine therapy. These two children could have been mistakenly diagnosed as having transient hypothyroidism. The detection of five patients with Pendred syndrome illustrates the importance of audiological assessment in all babies with thyroid dyshormonogenesis in whom there is increased uptake of isotope on thyroid scanning. In our experience, hearing loss in patients with Pendred syndrome may be progressive over time, so that repeated audiological assessments are necessary. 相似文献
19.
20.
Xian Qin Li-Ping Jiang Xue-Mei Tang Mo Wang En-Mei Liu Xiao-Dong Zhao 《World journal of pediatrics : WJP》2013,9(3):273-277