EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

abstract：:Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new,...

journal_title：Human mutation

authors： Su YN,Hung CC,Li H,Lee CN,Cheng WF,Tsao PN,Chang MC,Yu CL,Hsieh WS,Lin WL,Hsu SM

更新日期：2005-05-01 00:00:00

abstract：:Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early-onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α'-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction...

journal_title：Human mutation

authors： Weisschuh N,Stingl K,Audo I,Biskup S,Bocquet B,Branham K,Burstedt MS,De Baere E,De Vries MJ,Golovleva I,Green A,Heckenlively J,Leroy BP,Meunier I,Traboulsi E,Wissinger B,Kohl S

更新日期：2018-10-01 00:00:00

abstract：:Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis characterized by hyperpigmented and hypopigmented macules of on the extremities and caused by the mutations in the ADAR gene(also called DSRAD) encoding for RNA-specific adenosine deaminase. Here we reported clinical and mol...

journal_title：Human mutation

authors： Zhang XJ,He PP,Li M,He CD,Yan KL,Cui Y,Yang S,Zhang KY,Gao M,Chen JJ,Li CR,Jin L,Chen HD,Xu SJ,Huang W

更新日期：2004-06-01 00:00:00

abstract：:We describe a rapid and simple method for phenylketonuria genotyping which identifies five point mutations within exon 12 of the human phenylalanine hydroxylase gene. The method involves PCR amplification of the target exon and hybridization with a PCR-amplifiable synthetic DNA (universal heteroduplex generator, UHG)....

journal_title：Human mutation

authors： Wood N,Tyfield L,Bidwell J

更新日期：1993-01-01 00:00:00

abstract：:The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established according to the NIH consensus criteria in 100 individuals, while 8 were ...

journal_title：Human mutation

authors： Origone P,De Luca A,Bellini C,Buccino A,Mingarelli R,Costabel S,La Rosa C,Garrè C,Coviello DA,Ajmar F,Dallapiccola B,Bonioli E

更新日期：2002-07-01 00:00:00

abstract：:RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localization studies. We found the p.D59G variant by whole-exome sequencing in...

journal_title：Human mutation

authors： Ołdak M,Ścieżyńska A,Młynarski W,Borowiec M,Ruszkowska E,Szulborski K,Pollak A,Kosińska J,Mueller-Malesińska M,Stawiński P,Szaflik JP,Płoski R

更新日期：2014-10-01 00:00:00

abstract：:The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. During the 3 days of plenary workshops, keynote address, and poster sessions, a st...

journal_title：Human mutation

authors： Brookes AJ,Chanock SJ,Hudson TJ,Peltonen L,Abecasis G,Kwok PY,Scherer SW

更新日期：2009-07-01 00:00:00

abstract：:Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is c...

journal_title：Human mutation

authors： Denora PS,Schlesinger D,Casali C,Kok F,Tessa A,Boukhris A,Azzedine H,Dotti MT,Bruno C,Truchetto J,Biancheri R,Fedirko E,Di Rocco M,Bueno C,Malandrini A,Battini R,Sickl E,de Leva MF,Boespflug-Tanguy O,Silvestri G,S

更新日期：2009-03-01 00:00:00

abstract：:In reduced representation bisulfite sequencing (RRBS), genomic DNA is digested with the restriction enzyme and then subjected to next-generation sequencing, which enables detection and quantification of DNA methylation at whole-genome scale with low cost. However, the data processing, interpretation, and analysis of t...

journal_title：Human mutation

authors： Wang T,Liu Q,Li X,Wang X,Li J,Zhu X,Sun ZS,Wu J

更新日期：2013-12-01 00:00:00

abstract：:Okihiro/Duane-radial ray syndrome (DRRS) is an autosomal dominant condition characterized by radial ray defects and Duane anomaly (a form of strabismus). Other abnormalities reported in this condition are anal, renal, cardiac, ear, and foot malformations, and hearing loss. The disease is the result of a mutation in th...

journal_title：Human mutation

authors： Kohlhase J,Chitayat D,Kotzot D,Ceylaner S,Froster UG,Fuchs S,Montgomery T,Rösler B

更新日期：2005-09-01 00:00:00

abstract：:MUTYH-associated polyposis (MAP) is an adenomatous polyposis transmitted in an autosomal-recessive pattern, involving biallelic inactivation of the MUTYH gene. Loss of a functional MUTYH protein will result in the accumulation of G:T mismatched DNA caused by oxidative damage. Although p.Y179C and p.G396D are the two m...

journal_title：Human mutation

authors： Komine K,Shimodaira H,Takao M,Soeda H,Zhang X,Takahashi M,Ishioka C

更新日期：2015-07-01 00:00:00

abstract：:We have analysed 194 Belgian CF chromosomes using a variety of techniques: delta F508 was detected by polyacrylamide gel electrophoresis; dot blotting of PCR products was used to identify the mutations G542X, 1717-1 G-->A, and N1303K; molecular defects in exons 2, 3, 4, 5, 6b, 7, 11, 12, 13, 14a, 14b, 17b, 19, 20, and...

journal_title：Human mutation

authors： Mercier B,Lissens W,Audrézet MP,Bonduelle M,Liebaers I,Ferec C

更新日期：1993-01-01 00:00:00

abstract：:A single nucleotide polymorphism (SNP) at codon 64 in the CC chemokine receptor 2 gene (CCR2 V64I) has been associated with a dominant effect of delaying disease progression from human immunodeficiency virus-1 (HIV-1) infection to acquired immunodeficiency syndrome (AIDS). The objective of our study was to design a co...

journal_title：Human mutation

authors： Petersen DC,Laten A,Zeier MD,Grimwood A,Rensburg EJ,Hayes VM

更新日期：2002-10-01 00:00:00

abstract：:Wolfram syndrome (WS), a rare autosomal recessive neurodegenerative disorder, results in most cases from mutations in the WFS1 gene. In this study, a total of 19 patients with Wolfram syndrome and 36 relatives from 17 families were screened for mutations in the WFS1 gene. WFS1 mutations were identified on both alleles...

journal_title：Human mutation

authors： Giuliano F,Bannwarth S,Monnot S,Cano A,Chabrol B,Vialettes B,Delobel B,Paquis-Flucklinger V,French Group of WS.

更新日期：2005-01-01 00:00:00

abstract：:Genome sequencing identifies vast number of genetic variants. Predicting these variants' molecular and clinical effects is one of the preeminent challenges in human genetics. Accurate prediction of the impact of genetic variants improves our understanding of how genetic information is conveyed to molecular and cellula...

journal_title：Human mutation

authors： Hu Z,Yu C,Furutsuki M,Andreoletti G,Ly M,Hoskins R,Adhikari AN,Brenner SE

更新日期：2019-09-01 00:00:00

abstract：:Mutations in the human voltage-gated K+ channel subunit KV 4.3-encoding KCND3 gene have been associated with the autosomal dominant neurodegenerative disorder spinocerebellar ataxia types 19 and 22 (SCA19/22). The precise pathophysiology underlying the dominant inheritance pattern of SCA19/22 remains elusive. Using ce...

journal_title：Human mutation

authors： Hsiao CT,Fu SJ,Liu YT,Lu YH,Zhong CY,Tang CY,Soong BW,Jeng CJ

更新日期：2019-11-01 00:00:00

abstract：:The Fifth International Mutation Detection Workshop brought together inventors and major users of mutation detection methodology in a freshly refurbished 17(th) century monastery in northern Italy. There were over 120 registrants from 22 nations, all of which gave either a poster or oral presentation, making it diffic...

journal_title：Human mutation

authors： Dianzani I,Landegren U,Camaschella C,Ponzone A,Piazza A,Cotton RG

更新日期：1999-01-01 00:00:00

abstract：:We analyzed the data regarding six Japanese ataxia-telangiectasia (A-T) patients from four unrelated families, at the DNA level, to search for possible common mutations in the Japanese population. Among eight mutant alleles in the four families, c. 4612del165 (exon 33 skipping) was identified in two alleles, and c. 57...

journal_title：Human mutation

authors： Fukao T,Song XQ,Yoshida T,Tashita H,Kaneko H,Teramoto T,Inoue R,Katamura K,Mayumi M,Hiratani M,Taniguchi N,Arai J,Wakiguchi H,Bar-Shira A,Shiloh Y,Kondo N

更新日期：1998-01-01 00:00:00

abstract：:Small molecule pharmacological inhibition of dominant human genetic disease is a feasible treatment that does not rely on the development of individual, patient-specific gene therapy vectors. However, the consequences of protein inhibition as a clinical therapeutic are not well-studied. In advance of human therapeutic...

journal_title：Human mutation

authors： Wert KJ,Koch SF,Velez G,Hsu CW,Mahajan M,Bassuk AG,Tsang SH,Mahajan VB

更新日期：2019-12-01 00:00:00

abstract：:Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retina...

journal_title：Human mutation

authors： Neveling K,Collin RW,Gilissen C,van Huet RA,Visser L,Kwint MP,Gijsen SJ,Zonneveld MN,Wieskamp N,de Ligt J,Siemiatkowska AM,Hoefsloot LH,Buckley MF,Kellner U,Branham KE,den Hollander AI,Hoischen A,Hoyng C,Klevering BJ

更新日期：2012-06-01 00:00:00

abstract：:Usher syndrome (USH) is a clinically and genetically heterogeneous autosomal recessive disorder in which sensorineural hearing loss is associated with retinitis pigmentosa. Usher syndrome type 1, the most severe form, is characterized by profound congenital deafness, vestibular dysfunction, and prepubertal onset of re...

journal_title：Human mutation

authors： Zwaenepoel I,Verpy E,Blanchard S,Meins M,Apfelstedt-Sylla E,Gal A,Petit C

更新日期：2001-01-01 00:00:00

abstract：:Sterol regulatory element binding protein 1 (SREBP-1) transcription factors play a key role in energy homeostasis by regulating genes involved in both carbohydrate and lipid metabolism, and in adipocyte differentiation. The 5' end of the mRNA-encoding SREBP-1 exists in two forms, designated 1a and 1c. The divergence r...

journal_title：Human mutation

authors： Vernia S,Eberlé D,Hernandez Mijares A,Foufelle F,Casado M

更新日期：2006-02-01 00:00:00

abstract：:ICF syndrome is a rare autosomal recessive immunoglobulin deficiency, sometimes combined with defective cellular immunity. Other features that are frequently observed in ICF syndrome patients include facial dysmorphism, developmental delay, and recurrent infections. The most diagnostic feature of ICF syndrome is the b...

journal_title：Human mutation

authors： Wijmenga C,Hansen RS,Gimelli G,Björck EJ,Davies EG,Valentine D,Belohradsky BH,van Dongen JJ,Smeets DF,van den Heuvel LP,Luyten JA,Strengman E,Weemaes C,Pearson PL

更新日期：2000-12-01 00:00:00

abstract：:The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic human missense mutations in the PCM1 protein implicated in schizophrenia. Participants were provided with 16 benign variants (negative controls), 10 hypomorphic, and 12 loss of function variants. Six groups participated ...

journal_title：Human mutation

authors： Monzon AM,Carraro M,Chiricosta L,Reggiani F,Han J,Ozturk K,Wang Y,Miller M,Bromberg Y,Capriotti E,Savojardo C,Babbi G,Martelli PL,Casadio R,Katsonis P,Lichtarge O,Carter H,Kousi M,Katsanis N,Andreoletti G,Moult J

更新日期：2019-09-01 00:00:00

abstract：:The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutations were a C-G sub...

journal_title：Human mutation

authors： Barbat B,Bogyo A,Raux-Demay MC,Kuttenn F,Boué J,Simon-Bouy B,Serre JL,Mornet E

更新日期：1995-01-01 00:00:00

abstract：:Sotos syndrome is a human developmental and cognitive disorder caused by happloinsufficiency of transcription factor NSD1. Similar phenotypes arise from NSD1 gene deletion or from point mutations in 9 of 13 NSD1 domains, including all 6 PHD domains, indicating that each NSD1 domain performs an essential role. To gain ...

journal_title：Human mutation

authors： Pasillas MP,Shah M,Kamps MP

更新日期：2011-03-01 00:00:00

abstract：:The Ataxia Telangiectasia Mutation (ATM) gene is mutated in the rare recessive syndrome Ataxia Telangiectasia (AT), which is characterized by cerebellar degeneration, immunodeficiency, and cancer predisposition. In this study, 41 AT families from Denmark, Finland, Norway, and Sweden were screened for ATM mutations. Th...

journal_title：Human mutation

authors： Laake K,Jansen L,Hahnemann JM,Brondum-Nielsen K,Lönnqvist T,Kääriäinen H,Sankila R,Lähdesmäki A,Hammarström L,Yuen J,Tretli S,Heiberg A,Olsen JH,Tucker M,Kleinerman R,Børresen-Dale AL

更新日期：2000-09-01 00:00:00

abstract：:The dramatic advances in genetic sequencing technologies used in research laboratories are now entering the clinic, and applications of whole-genome and whole-exome sequencing to disease diagnosis, predisposition, and treatment will soon be commonplace. However, the standards and methods for identifying clinically rel...

journal_title：Human mutation

authors： Stanley CM,Sunyaev SR,Greenblatt MS,Oetting WS

更新日期：2014-04-01 00:00:00

abstract：:microRNAs (miRNAs) are widely involved in craniofacial development, and genetic variants of miRNAs may be associated with the risk of nonsyndromic orofacial cleft (NSOC). Here, we systematically selected five single nucleotide polymorphisms (SNPs) of miRNAs and investigated the associations between these variants and ...

journal_title：Human mutation

authors： Pan Y,Li D,Lou S,Zhang C,Du Y,Jiang H,Zhang W,Ma L,Wang L

更新日期：2018-05-01 00:00:00

abstract：:The genetic polymorphism of the thiopurine S-methyltransferase, TPMT, comprises at least 21 alleles causing three distinct drug metabolism phenotypes termed normal/high, intermediate, and deficient methylators. In consequence, adverse drug reactions may occur if standard doses of thiopurines are applied routinely. Gen...

journal_title：Human mutation

authors： Schaeffeler E,Eichelbaum M,Reinisch W,Zanger UM,Schwab M

更新日期：2006-09-01 00:00:00