共查询到8条相似文献,搜索用时 15 毫秒
1.
K. Mizugishi Keiko Yamanaka Katsuko Kuwajima Ikuko Kondo 《Journal of human genetics》1998,43(3):178-181
Interstitial deletion of 7q11.23–q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome
(WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci
for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion
of 7q11.2–q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the
6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality,
and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion
of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for
infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.
Received: April 27, 1998 / Accepted: May 29, 1998 相似文献
2.
Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia 下载免费PDF全文
J. Thevenon S. Phadke T. Eguether A. Saunier M. Avila V. Carmignac A.‐L. Bruel J. St‐Onge Y. Duffourd G.J. Pazour B. Franco T. Attie‐Bitach A. Masurel‐Paulet J.‐B. Rivière V. Cormier‐Daire C. Philippe L. Faivre C. Thauvin‐Robinet 《Clinical genetics》2016,90(6):509-517
3.
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping 下载免费PDF全文
C.L. Beaulieu A. Masurel‐Paulet H. Najmabadi Z. Fattahi M. Beheshtian S.H. Tonekaboni S. Tang K.L. Helbig W. Alcaraz J.‐B. Rivière L. Faivre A.M. Innes R.R. Lebel K.M. Boycott CareRare Canada Consortium 《Clinical genetics》2017,91(1):92-99
4.
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females 下载免费PDF全文
R. Webster M.T. Cho K. Retterer F. Millan C. Nowak J. Douglas A. Ahmad G.V. Raymond M.R. Johnson A. Pujol A. Begtrup D. McKnight W.K. Chung 《Clinical genetics》2017,91(5):756-763
5.
D. K. Bayer C. A. Martinez H. S. Sorte L. R. Forbes G. J. Demmler‐Harrison I. C. Hanson N. M. Pearson L. M. Noroski S. R. Zaki W. J. Bellini M. S. Leduc Y. Yang C. M. Eng A. Patel O. K. Rodningen D. M. Muzny R. A. Gibbs I. M. Campbell C. A. Shaw M. W. Baker V. Zhang J. R. Lupski J. S. Orange A. Stray‐Pedersen 《Clinical and experimental immunology》2014,178(3):459-469
In areas without newborn screening for severe combined immunodeficiency (SCID), disease‐defining infections may lead to diagnosis, and in some cases, may not be identified prior to the first year of life. We describe a female infant who presented with disseminated vaccine‐acquired varicella (VZV) and vaccine‐acquired rubella infections at 13 months of age. Immunological evaluations demonstrated neutropenia, isolated CD4 lymphocytopenia, the presence of CD8+ T cells, poor lymphocyte proliferation, hypergammaglobulinaemia and poor specific antibody production to VZV infection and routine immunizations. A combination of whole exome sequencing and custom‐designed chromosomal microarray with exon coverage of primary immunodeficiency genes detected compound heterozygous mutations (one single nucleotide variant and one intragenic copy number variant involving one exon) within the IL7R gene. Mosaicism for wild‐type allele (20–30%) was detected in pretransplant blood and buccal DNA and maternal engraftment (5–10%) demonstrated in pretransplant blood DNA. This may be responsible for the patient's unusual immunological phenotype compared to classical interleukin (IL)‐7Rα deficiency. Disseminated VZV was controlled with anti‐viral and immune‐based therapy, and umbilical cord blood stem cell transplantation was successful. Retrospectively performed T cell receptor excision circle (TREC) analyses completed on neonatal Guthrie cards identified absent TREC. This case emphasizes the danger of live viral vaccination in severe combined immunodeficiency (SCID) patients and the importance of newborn screening to identify patients prior to high‐risk exposures. It also illustrates the value of aggressive pathogen identification and treatment, the influence newborn screening can have on morbidity and mortality and the significant impact of newer genomic diagnostic tools in identifying the underlying genetic aetiology for SCID patients. 相似文献
6.
Onur Emre Onat Suleyman Gulsuner Kaya Bilguvar Ayse Nazli Basak Haluk Topaloglu Meliha Tan Uner Tan Murat Gunel Tayfun Ozcelik 《European journal of human genetics : EJHG》2013,21(3):281-285
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12. Targeted next-generation sequencing of an affected individual followed by segregation analysis, population screening and prediction approaches revealed a novel missense variant, p.I376M, in ATP8A2. The mutation lies in a highly conserved C-terminal transmembrane region of E1 E2 ATPase domain. The ATP8A2 gene is mainly expressed in brain and development, in particular cerebellum. Interestingly, an unrelated individual has been identified, in whom mental retardation and severe hypotonia is associated with a de novo t(10;13) balanced translocation resulting with the disruption of ATP8A2. These findings suggest that ATP8A2 is involved in the development of the cerebro-cerebellar structures required for posture and gait in humans. 相似文献
7.
Charlotte von der Lippe Kristian Tveten Trine E. Prescott
ystein L. Holla
yvind L. Busk Katherine B. Burke Francis H. Sansbury Júlia Baptista Andrew E. Fry Derek Lim Stephen Jolles Jennifer Evans Deborah Osio Carol Macmillan Irene Bruno Flavio Faletra Salvador Climent Roser Urreitzi Janet Hoenicka Francesc Palau Ana S. A. Cohen Kendra Engleman Dihong Zhou Shivarajan M. Amudhavalli Mdric Jeanne Frdrique Bonnet-Brilhault Jonathan Lvy Sverine Drunat Nicolas Derive Marte G. Haug Wenche M. Thorstensen 《American journal of medical genetics. Part A》2022,188(1):272-282
8.
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency 下载免费PDF全文
W. Yang P.P.W. Lee M.‐K. Thong T.M. Ramanujam A. Shanmugam M.‐T. Koh K.‐W. Chan D. Ying Y. Wang J.J. Shen J. Yang Y.L. Lau 《Clinical genetics》2015,88(6):542-549
Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA‐SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations. 相似文献