GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

abstract：:Fumarate hydratase (FH) mutations underpin the autosomal recessive syndrome. FH deficiency and the autosomal dominant syndrome hereditary leiomyomatosis and renal cell carcinoma (HLRCC). The FH c.1431_1433dupAAA (p.Lys477dup) genomic alteration has been conclusively shown to contribute to FH deficiency when occurring ...

journal_title：Human mutation

authors： Zhang L,Walsh MF,Jairam S,Mandelker D,Zhong Y,Kemel Y,Chen YB,Musheyev D,Zehir A,Jayakumaran G,Brzostowski E,Birsoy O,Yang C,Li Y,Somar J,DeLair D,Pradhan N,Berger MF,Cadoo K,Carlo MI,Robson ME,Stadler ZK,Iaco

更新日期：2020-01-01 00:00:00

abstract：:Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of sev...

journal_title：Human mutation

authors： Hijazi H,Coelho FS,Gonzaga-Jauregui C,Bernardini L,Mar SS,Manning MA,Hanson-Kahn A,Naidu S,Srivastava S,Lee JA,Jones JR,Friez MJ,Alberico T,Torres B,Fang P,Cheung SW,Song X,Davis-Williams A,Jornlin C,Wight PA,Paty

更新日期：2020-01-01 00:00:00

abstract：:Mutation detection based on ribonuclease cleavage of basepair mismatches in single-stranded RNA probes hybridized to DNA targets was first described over 15 years ago. The original methods relied on RNase A for mismatch cleavage; however, this enzyme fails to cleave many mismatches and has other drawbacks. More recent...

journal_title：Human mutation

authors： Goldrick MM

更新日期：2001-09-01 00:00:00

abstract：:Glutamatergic neurotransmission is crucial for brain development, wiring neuronal function, and synaptic plasticity mechanisms. Recent genetic studies showed the existence of autosomal dominant de novo GRIN gene variants associated with GRIN-related disorders (GRDs), a rare pediatric neurological disorder caused by N-...

journal_title：Human mutation

authors： García-Recio A,Santos-Gómez A,Soto D,Julia-Palacios N,García-Cazorla À,Altafaj X,Olivella M

更新日期：2020-11-30 00:00:00

abstract：:Primary ovarian insufficiency (POI) is a disorder associated with female infertility, which affects approximately 1% of women under 40 years of age. A genetic component has been suggested as one possible cause of the majority of cases of nonsyndromic forms. Newborn Ovary Homeobox (NOBOX) is an ovary-specific gene, pla...

journal_title：Human mutation

authors： Bouilly J,Bachelot A,Broutin I,Touraine P,Binart N

更新日期：2011-10-01 00:00:00

abstract：:FH Helsinki is a deletion of the low-density lipoprotein receptor (LDLR) gene that deletes 9.6 kb from intron 15 to exon 18. Screening for mutant transcripts by Northern blot analysis from a patient heterozygous for FH Helsinki revealed two mutant transcripts. One was a transcript where the proximal part of intron 15 ...

journal_title：Human mutation

authors： Rødningen OK,Tonstad S,Ose L,Berg K,Leren TP

更新日期：1998-01-01 00:00:00

abstract：:We report the isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X and DXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2). The (TAAAA)n repeat of loci DXYS156 occurs within a hum...

journal_title：Human mutation

authors： Chen H,Lowther W,Avramopoulos D,Antonarakis SE

更新日期：1994-01-01 00:00:00

abstract：:Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These diseases show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal of performing clinical and genetic mapping of the majority of I...

journal_title：Human mutation

authors： Sharon D,Ben-Yosef T,Goldenberg-Cohen N,Pras E,Gradstein L,Soudry S,Mezer E,Zur D,Abbasi AH,Zeitz C,Cremers FPM,Khan MI,Levy J,Rotenstreich Y,Birk OS,Ehrenberg M,Leibu R,Newman H,Shomron N,Banin E,Perlman I

更新日期：2020-01-01 00:00:00

abstract：:Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutations have been identified in seven patients. We investigate...

journal_title：Human mutation

authors： Item CB,Mercimek-Mahmutoglu S,Battini R,Edlinger-Horvat C,Stromberger C,Bodamer O,Mühl A,Vilaseca MA,Korall H,Stöckler-Ipsiroglu S

更新日期：2004-05-01 00:00:00

abstract：:Longitudinal bone growth is determined by the process of endochondral ossification in the cartilaginous growth plate, which is located at both ends of vertebrae and long bones and involves many systemic hormones and local regulators. We report the molecular characterization of a de novo balanced t(2;7)(q37.1;q21.3) tr...

journal_title：Human mutation

authors： Bocciardi R,Giorda R,Buttgereit J,Gimelli S,Divizia MT,Beri S,Garofalo S,Tavella S,Lerone M,Zuffardi O,Bader M,Ravazzolo R,Gimelli G

更新日期：2007-07-01 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：:Hemoglobinopathies constitute a major health problem worldwide, with a high carrier frequency, particularly in certain regions where malaria has been endemic. These disorders are characterized by a vast clinical and hematological phenotypic heterogeneity. Over 1,200 different genetic alterations that affect the DNA se...

journal_title：Human mutation

authors： Patrinos GP,Kollia P,Papadakis MN

更新日期：2005-11-01 00:00:00

abstract：:Heritable connective tissue diseases are a highly heterogeneous family of over 200 disorders that affect the extracellular matrix. While the genetic basis of several disorders is established, the etiology has not been discovered for a large portion of patients, likely due to rare yet undiscovered disease genes. By per...

journal_title：Human mutation

authors： Capuano A,Bucciotti F,Farwell KD,Tippin Davis B,Mroske C,Hulick PJ,Weissman SM,Gao Q,Spessotto P,Colombatti A,Doliana R

更新日期：2016-01-01 00:00:00

abstract：:The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group's standards and guidelines. A PAH variant curation ex...

journal_title：Human mutation

authors： Zastrow DB,Baudet H,Shen W,Thomas A,Si Y,Weaver MA,Lager AM,Liu J,Mangels R,Dwight SS,Wright MW,Dobrowolski SF,Eilbeck K,Enns GM,Feigenbaum A,Lichter-Konecki U,Lyon E,Pasquali M,Watson M,Blau N,Steiner RD,Craige

更新日期：2018-11-01 00:00:00

abstract：:The inclusion of a mutation in a pathology-based database such as the Human Gene Mutation Database (HGMD) is a two-stage process: first, the mutation must occur at the DNA level, then it must cause a clinically detectable disease state. The likelihood of the latter step, termed the relative clinical observation likeli...

journal_title：Human mutation

authors： Terp BN,Cooper DN,Christensen IT,Jørgensen FS,Bross P,Gregersen N,Krawczak M

更新日期：2002-08-01 00:00:00

abstract：:Since the first report by our group in 1999, more than 20 unrelated biallelic mutations in DNA mismatch repair genes (MMR) have been identified. In the present report, we describe two novel cases: one carrying compound heterozygous mutations in the MSH6 gene; and the other, compound heterozygous mutations in the PMS2 ...

journal_title：Human mutation

authors： Auclair J,Leroux D,Desseigne F,Lasset C,Saurin JC,Joly MO,Pinson S,Xu XL,Montmain G,Ruano E,Navarro C,Puisieux A,Wang Q

更新日期：2007-11-01 00:00:00

abstract：:Advanced prostate cancer (PCa) has emerged as a public health concern due to population aging. Although androgen deprivation has proven efficacy in this condition, most advanced PCa patients will have to face failure of androgen deprivation as a treatment. Mutations in the androgen receptor (AR) from tumor cells have ...

journal_title：Human mutation

authors： Marcias G,Erdmann E,Lapouge G,Siebert C,Barthélémy P,Duclos B,Bergerat JP,Céraline J,Kurtz JE

更新日期：2010-01-01 00:00:00

abstract：:FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. The FRAXE mutation is an expansion of a CCG repeat that results in methylation of a nearby CpG island. FRAXE alleles could be divided into four categories: normal (6-30 ...

journal_title：Human mutation

authors： Santos CB,Costa Lima MA,Pimentel MM

更新日期：2001-08-01 00:00:00

abstract：:Most genomic alterations are tolerated while only a minor fraction disrupts molecular function sufficiently to drive disease. Protein kinases play a central biological function and the functional consequences of their variants are abundantly characterized. However, this heterogeneous information is often scattered acr...

journal_title：Human mutation

authors： Vazquez M,Pons T,Brunak S,Valencia A,Izarzugaza JM

更新日期：2016-01-01 00:00:00

abstract：:For most Mendelian disorders, targeted genome sequencing is an effective method to detect causative mutations. However, sequencing PCR-amplified exonic regions and their intronic boundaries can miss large deletions or duplications and mutations that lead to PCR failures in autosomal dominant disorders and in heterozyg...

journal_title：Human mutation

authors： Dobrovolny R,Nazarenko I,Kim J,Doheny D,Desnick RJ

更新日期：2011-06-01 00:00:00

abstract：:Mutations in the SLC22A5 gene, which encodes for the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). After our first report of OCTN2 mutations in Chinese, three more Chinese PCD patients were identified. The parents of these families were non-consanguineous and these families wer...

journal_title：Human mutation

authors： Tang NL,Hwu WL,Chan RT,Law LK,Fung LM,Zhang WM

更新日期：2002-09-01 00:00:00

abstract：:Whole-exome sequencing and whole-genome sequencing are gradually entering into the clinical arena. Drops in sequencing prices have led some to suggest that these analyses could be extended to the screening of whole populations or subsets thereof. Herein, we argue that this optimism is presently still unfounded. While ...

journal_title：Human mutation

authors： Beckmann JS

更新日期：2015-03-01 00:00:00

abstract：:Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally by neurological and sensory impairment, cachectic dwarfism, and photosensitivity. This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled DNA repair p...

journal_title：Human mutation

authors： Laugel V,Dalloz C,Durand M,Sauvanaud F,Kristensen U,Vincent MC,Pasquier L,Odent S,Cormier-Daire V,Gener B,Tobias ES,Tolmie JL,Martin-Coignard D,Drouin-Garraud V,Heron D,Journel H,Raffo E,Vigneron J,Lyonnet S,Murday

更新日期：2010-02-01 00:00:00

abstract：:Study of two families containing individuals with nephrogenic diabetes insipidus (NDI) indicated different types of 21.3 kb and 26.3 kb deletions involving the AVPR2 and ARHGAP4 (RhoGAP C1) genes. In the case of the 21.3 kb deletion, the deletion consensus motif (5'-TGAAGG-3') and polypurine runs, known as the arrest ...

journal_title：Human mutation

authors： Demura M,Takeda Y,Yoneda T,Furukawa K,Usukura M,Itoh Y,Mabuchi H

更新日期：2002-01-01 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：:Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X gene (NFIX) were recently identified as the cause of MSS. In our stu...

journal_title：Human mutation

authors： Schanze D,Neubauer D,Cormier-Daire V,Delrue MA,Dieux-Coeslier A,Hasegawa T,Holmberg EE,Koenig R,Krueger G,Schanze I,Seemanova E,Shaw AC,Vogt J,Volleth M,Reis A,Meinecke P,Hennekam RC,Zenker M

更新日期：2014-09-01 00:00:00

abstract：:Pathogenic genetic variants often primarily affect splicing. However, it remains difficult to quantitatively predict whether and how genetic variants affect splicing. In 2018, the fifth edition of the Critical Assessment of Genome Interpretation proposed two splicing prediction challenges based on experimental perturb...

journal_title：Human mutation

authors： Cheng J,Çelik MH,Nguyen TYD,Avsec Ž,Gagneur J

更新日期：2019-09-01 00:00:00

abstract：:The ATM gene is mutated in ataxia-telangiectasia (AT). Heterozygote female relatives of AT cases have a 2-7fold increased risk of breast cancer. We previously reported high risks of breast cancer associated with certain ATM variants. To estimate the risks more precisely, we have examined two ATM variants, c.1066-6T>G ...

journal_title：Human mutation

authors： Thompson D,Antoniou AC,Jenkins M,Marsh A,Chen X,Wayne T,Tesoriero A,Milne R,Spurdle A,Thorstenson Y,Southey M,Giles GG,Khanna KK,Sambrook J,Oefner P,Goldgar D,Hopper JL,Easton D,Chenevix-Trench G,KConFab Investigato

更新日期：2005-06-01 00:00:00

abstract：:Dilated cardiomyopathy (DCM) is characterized by dilation of left ventricular cavity with systolic dysfunction. Clinical symptom of DCM is heart failure, often associated with cardiac sudden death. About 20-35% of DCM patients have apparent family histories and it has been revealed that mutations in genes for sarcomer...

journal_title：Human mutation

authors： Arimura T,Ishikawa T,Nunoda S,Kawai S,Kimura A

更新日期：2011-12-01 00:00:00

abstract：:N-acetyltransferase (NAT2) is an enzyme involved in detoxification of various carcinogens. The gene is highly polymorphic with a number of alleles, and is also known as acetylator phenotypes: the fast, intermediate and slow acetylators. In this report, we describe a novel NAT2 allele, which was found in the allele typ...

journal_title：Human mutation

authors： Shishikura K,Hohjoh H,Tokunaga K

更新日期：2000-06-01 00:00:00