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1.
Background
Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement.Objective
To identify clinical manifestations and DDC gene mutations in two Chinese mainland children who are siblings with AADC deficiency.Methods
We used targeted next-generation sequencing and quantitative polymerase chain reaction (qPCR) to reveal DDC mutations in these children.Results
Two DDC gene mutations were found: one missense mutation, c.1040G?>?A (p.Arg347Gln), is a reported mutation derived from the mother; the other mutation, a whole-exon 11 and 12 deletion, is a novel mutation derived from the father. The index patient and her brother both had poor sucking power and feeding difficulty at birth and episodes of oculogyric crises, truncal hypotonia, limb hypertonia, sleep disturbances, irritability, and motor delay. The siblings both died at 1?year and 10?months due to asphyxia and pneumonia during gaze and hypertonia episodes.Conclusion
This study identified a novel DDC gene deletion mutation in two siblings with AADC deficiency disease in the Chinese mainland population. 相似文献2.
Enkhtuvshin Gereltzul Yoshiyuki Baba Naoto Suda Momotoshi Shiga Maristela Sayuri Inoue Michiko Tsuji Insik Shin Yukio Hirata Kimie Ohyama Keiji Moriyama 《Journal of human genetics》2008,53(10):941-946
This is a report of a 27-year-old woman with an unusual de novo chromosomal abnormality. Mosaicism was identified in peripheral
blood cells examined by standard G-bands by trypsin using Giemsa (GTG) analysis and fluorescence in situ hybridization (FISH)
analysis with chromosome-18 region-specific probes, 46,XX,del(18)(pter → q21.33:)[41], 46,XX,r(18)(::p11.21 → q21.33::)[8],
and 46,XX,der(18)(pter → q21.33::p11.21 → pter)[1]. On the other hand, the karyotype of periodontal ligament fibroblasts was
nonmosaic, 46,XX, der(18)(pter → q21.33::p11.21 → pter)[50]. All cell lines appeared to be missing a portion of 18q (q21.33 → qter).
The pattern of the dup(18p)/del(18q) in the rod configuration raises the possibility of an inversion in chromosome 18 in one
of the parents. However, no chromosomal anomaly was detected in either parent. The most probable explanation is that de novo
rod and ring configurations arose simultaneously from an intrachromosomal exchange. The unique phenotype of this patient,
which included primary hypothyroidism and primary hypogonadism, is discussed in relation to her karyotype. 相似文献
3.
4.
cag致病岛缺失的中国幽门螺杆菌突变菌株的构建及鉴定 总被引:1,自引:0,他引:1
5.
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis 总被引:10,自引:0,他引:10
Albert de La Chapelle Eeva-Marja Sankila Mikael Lindlöf Pertti Aula Reuo Norio 《Clinical genetics》1985,28(4):317-320
Carrier determination and prenatal diagnosis in Norrie disease (ND) has so far not been reported. We describe a kindred with 4 members affected by ND in which a deletion comprising gene locus DXS7 on the short arm of the X chromosome defined by probe L1.28 causes the disorder. This allowed us to predict via chorion villus biopsy that a male foetus of a carrier woman is unaffected. 相似文献
6.
目的 构建HPI毒力岛缺失的EAggEC17-2突变株,初步研究EAggEC菌株携带的耶尔森菌HPI毒力岛合成铁载体Ybt的功能。方法以EAggEC17-2为出发菌株,irp8基因部分序列作为同源重组的一侧序列,irp5基因序列作为同源重组的另一侧序列,中间插入有氯霉素(Can)抗性基因(cat基因)标记。通过接合转移和同源重组,构建了缺失约24kb的HPI毒力岛功能核心区区域EAggEC17-2的仝岛缺失株EA85。应用流式细胞技术(FACS)检测指示菌株WA-CS irp1::KN(pC3G3.3N)荧光强度的变化情况,对EA85缺失株和出发菌株进行了合成Ybt的功能比较研究。结果成功构建了EAggEC17-2HPI全岛缺失株EA85。EAggEC17-2菌株具有表达Ybt的功能,而缺失株EA85丧失了合成Ybt的能力。结论EAggEC17-2HPI毒力岛的缺失,使Ybt的合成彻底阻断。EAggEC17-2具有的合成Ybt的功能是由其染色体携带的HPI毒力岛所决定的。 相似文献
7.
Lai PS Takeshima Y Adachi K Van Tran K Nguyen HT Low PS Matsuo M 《Journal of human genetics》2002,47(10):0552-0555
The frequency and distribution of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central
regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam. DNA samples obtained
from 105 Singaporean, 86 Japanese, and 34 Vietnamese Duchenne muscular dystrophy patients were examined by polymerase chain
reaction amplification. Deletions of the examined exons were found in 51.2% of Japanese patients but in 40.0% or less of the
Singaporeans and Vietnamese. About two thirds of the deletions were localized in the central region and the remaining deletions
were clustered at the proximal region. The most commonly deleted exons at the central deletion hot spot were exon 50 in the
Singaporean, exons 49 and 50 in the Japanese, and exon 51 in the Vietnamese population. At the proximal deletion hot spot,
the most commonly deleted exons were exons 6 and 8 in the Singaporeans, exons 12 and 17 in the Japanese, and exons 8 and 12
in the Vietnamese. Two cases each from Singapore and Japan had large-scale gross mutations spanning both deletion hot spots.
Our results suggest that, although the presence and frequency of the two deletion hot spots may be similar in the three Asian
populations analyzed, the distribution and frequency of deletions among the different exons can vary as a result of population-specific
intronic sequences that predispose individuals to preferential deletion breakpoints.
Received: May 20, 2002 / Accepted: July 1, 2002 相似文献
8.
Jacqueline Schoumans Johan Staaf Gran Jnsson Johanna Rantala Kerstin Sars Zimmer ke Borg Magnus Nordenskjld Britt-Marie Anderlid 《European journal of medical genetics》2005,48(3):290-CGH
Smith–Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome and it is characterized by an interstitial deletion of chromosome 17p11.2. SMS patients have a distinct phenotype which is believed to be caused by haploinsufficiency of one or more genes in the associated deleted region. Five non-deletion patients with classical phenotypic features of SMS have been reported with mutations in the retinoic acid induced 1 (RAI1) gene, located within the SMS critical interval. Happloinsufficiency of the RAI1 gene is likely to be the responsible gene for the majority of the SMS features, but other deleted genes in the SMS region may modify the overall phenotype in the patients with 17p11.2 deletions. SMS is usually diagnosed in the clinical genetic setting by FISH analysis using commercially available probes. We detected a submicroscopic deletion in 17p11.2 using array-CGH with a resolution of approximately 1 Mb in a patient with the SMS phenotype, who was not deleted for the commercially available SMS microdeletion FISH probe. Delineation of the deletion was performed using a 32K tiling BAC-array, containing 32,500 BAC clones. The deletion in this patient was size mapped to 2.7 Mb and covered the RAI1 gene. This case enabled the refinement of the SMS minimum deletion to 650 kb containing eight putative genes and one predicted gene. In addition, it demonstrates the importance to investigate deletion of RAI1 in SMS patients. 相似文献
9.
目的 探讨人类非小细胞肺癌组织中p^16基因缺失及突变情况及其与临床病理的关系。方法 应用控制模板DNA量的银染PCR-SSCP技术检测40例非小细胞肺癌手术切除标本中p^16基因第2外显子。结果 40例中有13例发生纯合缺失,3例发生突变,缺失及突变率为40%,其缺失及突变率与肺癌的临床病理分期有密切关系(P〈0.05)。结论 p^16基因的缺失及突变可能在非小细胞肺癌的发生、发展及转移中起重要 相似文献
10.
Anna Scattone Gilda Caruso Andrea Marzullo Domenico Piscitelli Mattia Gentile Lucia Bonadonna Giuseppe Balducci Maria Cristina Digilio Alessandro Jenkner Francesca Diomedi Camassei Renata Boldrini Pietro Nazzaro Lucio Pollice Gabriella Serio 《Fetal and pediatric pathology》2003,22(4):323-341
Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours. 相似文献