Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.

abstract：:Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used ...

journal_title：Human mutation

authors： Chen CK,Mungall CJ,Gkoutos GV,Doelken SC,Köhler S,Ruef BJ,Smith C,Westerfield M,Robinson PN,Lewis SE,Schofield PN,Smedley D

更新日期：2012-05-01 00:00:00

abstract：:The spectrum of mutations causing dihydropteridine reductase is reviewed. A total of 12 point mutations have been described that map in the DHPR cDNA, resulting in amino acid substitutions, insertions and premature terminations. A further two mutations are described which result in aberrant splicing of DHPR transcript...

journal_title：Human mutation

authors： Smooker PM,Cotton RG

更新日期：1995-01-01 00:00:00

abstract：:Hereditary cataract is a phenotypically and genetically heterogeneous lens disease that is responsible for a significant proportion of the visual impairment and blindness that occurs in children. In a five-generation Chinese family with autosomal dominant inherited congenital cataract, clinical examination showed thre...

journal_title：Human mutation

authors： Gu F,Luo W,Li X,Wang Z,Lu S,Zhang M,Zhao B,Zhu S,Feng S,Yan YB,Huang S,Ma X

更新日期：2008-05-01 00:00:00

abstract：:Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accurate method to detec...

journal_title：Human mutation

authors： Shi J,Shibayama A,Liu Q,Nguyen VQ,Feng J,Santos M,Temudo T,Maciel P,Sommer SS

更新日期：2005-05-01 00:00:00

abstract：:Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data ...

journal_title：Human mutation

authors： Meester JAN,Sukalo M,Schröder KC,Schanze D,Baynam G,Borck G,Bramswig NC,Duman D,Gilbert-Dussardier B,Holder-Espinasse M,Itin P,Johnson DS,Joss S,Koillinen H,McKenzie F,Morton J,Nelle H,Reardon W,Roll C,Salih MA,Sa

更新日期：2018-09-01 00:00:00

abstract：:Warburg Micro syndrome and Martsolf syndrome (MS) are heterogeneous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Causative biallelic germline mutations have been identified in RAB3GAP1, RAB3GAP2, or RAB18, each of which encode proteins involved in membrane traff...

journal_title：Human mutation

authors： Handley MT,Morris-Rosendahl DJ,Brown S,Macdonald F,Hardy C,Bem D,Carpanini SM,Borck G,Martorell L,Izzi C,Faravelli F,Accorsi P,Pinelli L,Basel-Vanagaite L,Peretz G,Abdel-Salam GM,Zaki MS,Jansen A,Mowat D,Glass I,S

更新日期：2013-05-01 00:00:00

abstract：:Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families...

journal_title：Human mutation

authors： Frosk P,Greenberg CR,Tennese AA,Lamont R,Nylen E,Hirst C,Frappier D,Roslin NM,Zaik M,Bushby K,Straub V,Zatz M,de Paula F,Morgan K,Fujiwara TM,Wrogemann K

更新日期：2005-01-01 00:00:00

abstract：:Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the ma...

journal_title：Human mutation

authors： Touitou I,Magne X,Molinari N,Navarro A,Quellec AL,Picco P,Seri M,Ozen S,Bakkaloglu A,Karaduman A,Garnier JM,Demaille J,Koné-Paut I

更新日期：2000-09-01 00:00:00

abstract：:We have screened index cases from 25 Russian breast/ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using multiplex heteroduplex analysis. In addition we tested 22 patients with breast cancer diagnosed before age 40 without family history and 6 patients with bilateral ...

journal_title：Human mutation

authors： Tereschenko IV,Basham VM,Ponder BA,Pharoah PD

更新日期：2002-02-01 00:00:00

abstract：:Tuberous sclerosis complex (TSC) is a dominantly inherited multisystem disorder resulting in the development of hamartomatous growths in many organs. Genetic heterogeneity has been demonstrated linking the familial cases to either TSC1 at 9q34.3, or TSC2 at 16p13.3. About two-thirds of the TSC cases are sporadic and a...

journal_title：Human mutation

authors： Beauchamp RL,Banwell A,McNamara P,Jacobsen M,Higgins E,Northrup H,Short P,Sims K,Ozelius L,Ramesh V

更新日期：1998-01-01 00:00:00

abstract：:The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significant...

journal_title：Human mutation

authors： Menzel HJ,Dieplinger H,Sandholzer C,Karádi I,Utermann G,Császár A

更新日期：1995-01-01 00:00:00

abstract：:The evolutionary and biomedical importance of differential mRNA splicing is well established. Numerous studies have assessed patterns of differential splicing in different genes and correlated these patterns to the genotypes for adjacent single-nucleotide polymorphisms (SNPs). Here, we have chosen a reverse approach a...

journal_title：Human mutation

authors： ElSharawy A,Hundrieser B,Brosch M,Wittig M,Huse K,Platzer M,Becker A,Simon M,Rosenstiel P,Schreiber S,Krawczak M,Hampe J

更新日期：2009-04-01 00:00:00

abstract：:Mutation detection through exome sequencing allows simultaneous analysis of all coding sequences of genes. However, it cannot yet replace Sanger sequencing (SS) in diagnostics because of incomplete representation and coverage of exons leading to missing clinically relevant mutations. Targeted next-generation sequencin...

journal_title：Human mutation

authors： Sikkema-Raddatz B,Johansson LF,de Boer EN,Almomani R,Boven LG,van den Berg MP,van Spaendonck-Zwarts KY,van Tintelen JP,Sijmons RH,Jongbloed JD,Sinke RJ

更新日期：2013-07-01 00:00:00

abstract：:The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of mutation detection...

journal_title：Human mutation

authors： Kimberling WJ

更新日期：2005-11-01 00:00:00

abstract：:Single amino acid substitution is the type of protein alteration most related to human diseases. Current studies seek primarily to distinguish neutral mutations from harmful ones. Very few methods offer an explanation of the final prediction result in terms of the probable structural or functional effect on the protei...

journal_title：Human mutation

authors： Yip YL,Zoete V,Scheib H,Michielin O

更新日期：2006-09-01 00:00:00

abstract：:Phosphoglycerate kinase (PGK) is a X-linked enzyme that plays a key role in the glycolytic pathway. Twelve different variants have already been reported. We describe a new PGK variant, PGK Herlev (Asp 285-->Val), in a 69-year-old Danish patient with isolated chronic hemolysis but who had no neurological or muscular di...

journal_title：Human mutation

authors： Valentin C,Birgens H,Craescu CT,Brødum-Nielsen K,Cohen-Solal M

更新日期：1998-01-01 00:00:00

abstract：:Defective mitochondrial proteins are emerging as major contributors to human disease. Nicotinamide nucleotide transhydrogenase (NNT), a widely expressed mitochondrial protein, has a crucial role in the defence against oxidative stress. NNT variations have recently been reported in patients with familial glucocorticoid...

journal_title：Human mutation

authors： Metherell LA,Guerra-Assunção JA,Sternberg MJ,David A

更新日期：2016-10-01 00:00:00

abstract：:Reliable identification of cancer-related mutations in TP53 is often problematic, as these mutations can be randomly distributed throughout numerous codons and their relative abundance in clinical samples can fall below the sensitivity limits of conventional sequencing. To ensure the highest sensitivity in mutation de...

journal_title：Human mutation

authors： Li J,Milbury CA,Li C,Makrigiorgos GM

更新日期：2009-11-01 00:00:00

abstract：:Pendred syndrome is a recessive inherited disorder that consists of developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS) has been mapped to chromosome 7q22-q31, a...

journal_title：Human mutation

authors： López-Bigas N,Rabionet R,de Cid R,Govea N,Gasparini P,Zelante L,Arbonés ML,Estivill X

更新日期：1999-01-01 00:00:00

abstract：:The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from total aniridia to ...

journal_title：Human mutation

authors： Sale MM,Craig JE,Charlesworth JC,FitzGerald LM,Hanson IM,Dickinson JL,Matthews SJ,Heyningen Vv Vv,Fingert JH,Mackey DA

更新日期：2002-10-01 00:00:00

abstract：:Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears, arachnodactyly, contractures, and scoliosis. Recent reports also mention aortic root dilatation, a finding previously thought to differentiate the condition from...

journal_title：Human mutation

authors： Callewaert BL,Loeys BL,Ficcadenti A,Vermeer S,Landgren M,Kroes HY,Yaron Y,Pope M,Foulds N,Boute O,Galán F,Kingston H,Van der Aa N,Salcedo I,Swinkels ME,Wallgren-Pettersson C,Gabrielli O,De Backer J,Coucke PJ,De Paep

更新日期：2009-03-01 00:00:00

abstract：:Human transforming growth factor β-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins. An alteration in cell surface interactions could be the underlying cause for the progr...

journal_title：Human mutation

authors： Kheir V,Cortés-González V,Zenteno JC,Schorderet DF

更新日期：2019-06-01 00:00:00

abstract：:MUSK encodes the muscle-specific receptor tyrosine kinase (MuSK), a key component of the agrin-LRP4-MuSK-DOK7 signaling pathway, which is essential for the formation and maintenance of highly specialized synapses between motor neurons and muscle fibers. We report a patient with severe early-onset congenital myasthenic...

journal_title：Human mutation

authors： Rodríguez Cruz PM,Cossins J,Cheung J,Maxwell S,Jayawant S,Herbst R,Waithe D,Kornev AP,Palace J,Beeson D

更新日期：2020-03-01 00:00:00

abstract：:Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by alterations in the tumor suppressor gene NF1. Clinical manifestations include various neural crest derived tumors, pigmentation anomalies, bone deformations, and learning disabilities. NF1 encodes the Ras specific GTPase activating protein (RasGAP) ...

journal_title：Human mutation

authors： Welti S,Kühn S,D'Angelo I,Brügger B,Kaufmann D,Scheffzek K

更新日期：2011-02-01 00:00:00

abstract：:We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon-Lefèvre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early-onset, severe periodontitis. Others have also reported CTSC mutations in patients with severe prepubertal pe...

journal_title：Human mutation

authors： Hewitt C,McCormick D,Linden G,Turk D,Stern I,Wallace I,Southern L,Zhang L,Howard R,Bullon P,Wong M,Widmer R,Gaffar KA,Awawdeh L,Briggs J,Yaghmai R,Jabs EW,Hoeger P,Bleck O,Rüdiger SG,Petersilka G,Battino M,Bre

更新日期：2004-03-01 00:00:00

abstract：:Maturity onset diabetes of the young (MODY) is a genetically heterogeneous form of type 2 diabetes that is characterized by autosomal dominant inheritance, onset in early adulthood and a primary defect in insulin secretion. Mutations in at least six genes have been shown to underlie MODY, including mutations in GCK (e...

journal_title：Human mutation

authors： Cao H,Shorey S,Robinson J,Metzger DL,Stewart L,Cummings E,Hegele RA

更新日期：2002-12-01 00:00:00

abstract：:The 11th International Symposium on Mutations in the Genome was held on 6-10 June, 2011, in Santorini, Greece. Meeting participants described novel detection technologies, rapid advances in whole genome and whole-exome sequencing, but also highlighted the urgent need for the development of sequence variation databases...

journal_title：Human mutation

authors： Stavrou EF,Goriely A

更新日期：2012-10-01 00:00:00

abstract：:Gaucher disease results from mutations in the glucocerebrosidase gene located on human chromosome 1q21. Three clinical forms of Gaucher disease have been described: type 1, nonneuropathic; type 2, acute neuropathic; and type 3, subacute neuropathic. We have identified a novel mutation in a German-British patient with ...

journal_title：Human mutation

authors： Choy FY,Humphries ML,Ben-Yoseph Y

更新日期：1998-01-01 00:00:00

abstract：:We have analyzed DNA from peripheral blood of 42 cases of familial melanoma for germline mutations in exon 15 of the BRAF gene. No evidence of mutation was found. We have also analyzed DNA extracted from secondary melanoma from two members of these families. These results were also negative. In addition we have search...

journal_title：Human mutation

authors： Lang J,Boxer M,MacKie R

更新日期：2003-03-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a genetic heterogeneous disease with high mortality and poor prognosis. However, a large fraction of genetic cause remains unexplained, especially in sporadic IPF (∼80% IPF). By systemically reviewing related literature and potential pathogenic pathways, 92 potentially IPF-relate...

journal_title：Human mutation

authors： Deng Y,Li Z,Liu J,Wang Z,Cao Y,Mou Y,Fu B,Mo B,Wei J,Cheng Z,Luo L,Li J,Shu Y,Wang X,Luo G,Yang S,Wang Y,Zhu J,Yang J,Wu M,Xu X,Ge R,Chen X,Peng Q,Wei G,Li Y,Yang H,Fang S,Zhang X,Xiong W

更新日期：2018-09-01 00:00:00