A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.

abstract：:Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the arOP patie...

journal_title：Human mutation

authors： Susani L,Pangrazio A,Sobacchi C,Taranta A,Mortier G,Savarirayan R,Villa A,Orchard P,Vezzoni P,Albertini A,Frattini A,Pagani F

更新日期：2004-09-01 00:00:00

abstract：:Multiple variants of the vascular adhesion molecule-1 (VCAM1) promoter show increased nucleotide heterozygosity in the African American population. Using a novel transfection-based transcriptional pathway profiling method, we show that select uncommon variants are functionally hyperactive. Eight candidate VCAM1 promot...

journal_title：Human mutation

authors： Idelman G,Taylor JG,Tongbai R,Chen RA,Haggerty CM,Bilke S,Chanock SJ,Gardner K

更新日期：2007-08-01 00:00:00

abstract：:In mammals, the p53 family comprises two additional members, p63 and p73 (hereafter referred to as TP53, TP63, and TP73, respectively). The usage of two alternative promoters produces protein variants either with (transactivating [TA] isoforms) or without (ΔN isoforms) the N-terminal transactivation domain (TAD). In g...

journal_title：Human mutation

authors： Candi E,Agostini M,Melino G,Bernassola F

更新日期：2014-06-01 00:00:00

abstract：:The Human Variome Project (HVP) is an international consortium of clinicians, geneticists, and researchers from over 30 countries, aiming to facilitate the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease....

journal_title：Human mutation

authors： Pan M,Cong P,Wang Y,Lin C,Yuan Y,Dong J,Banerjee S,Zhang T,Chen Y,Zhang T,Chen M,Hu P,Zheng S,Zhang J,Qi M

更新日期：2011-12-01 00:00:00

abstract：:Dyskerin (encoded by the DKC1 locus) is the pseudouridine synthase responsible for the modification of noncoding RNA. Dyskerin is also an obligate member of the telomerase enzyme, and participates in the biogenesis of telomerase. Genetic lesions at the DKC1 locus are associated with X-linked dyskeratosis congenita (X-...

journal_title：Human mutation

authors： Thumati NR,Zeng XL,Au HH,Jang CJ,Jan E,Wong JM

更新日期：2013-12-01 00:00:00

abstract：:We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or de...

journal_title：Human mutation

authors： Ruaud L,Rice GI,Cabrol C,Piard J,Rodero M,van Eyk L,Boucher-Brischoux E,de Noordhout AM,Maré R,Scalais E,Pauly F,Debray FG,Dobyns W,Uggenti C,Park JW,Hur S,Livingston JH,Crow YJ,Van Maldergem L

更新日期：2018-08-01 00:00:00

abstract：:Rare, atypical, and undiagnosed autosomal-recessive disorders frequently occur in the offspring of consanguineous couples. Current routine diagnostic genetic tests fail to establish a diagnosis in many cases. We employed exome sequencing to identify the underlying molecular defects in patients with unresolved but puta...

journal_title：Human mutation

authors： Makrythanasis P,Nelis M,Santoni FA,Guipponi M,Vannier A,Béna F,Gimelli S,Stathaki E,Temtamy S,Mégarbané A,Masri A,Aglan MS,Zaki MS,Bottani A,Fokstuen S,Gwanmesia L,Aliferis K,Bustamante Eduardo M,Stamoulis G,Psoni S

更新日期：2014-10-01 00:00:00

abstract：:Collagen 6-related dystrophies and myopathies (COL6-RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich congenital muscular dystrophy, intermediate phenotypes, to the milder Bethlem myopathy. Both inter- and intrafamilial variable expressivity are commonly observed. We presen...

journal_title：Human mutation

authors： Donkervoort S,Hu Y,Stojkovic T,Voermans NC,Foley AR,Leach ME,Dastgir J,Bolduc V,Cullup T,de Becdelièvre A,Yang L,Su H,Meilleur K,Schindler AB,Kamsteeg EJ,Richard P,Butterfield RJ,Winder TL,Crawford TO,Weiss RB,Mun

更新日期：2015-01-01 00:00:00

abstract：:Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2). Recently, a schwannomatosis family with a germline mutation of the SMARCB1 gene on chromosome 22 has ...

journal_title：Human mutation

authors： Sestini R,Bacci C,Provenzano A,Genuardi M,Papi L

更新日期：2008-02-01 00:00:00

abstract：:NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstit...

journal_title：Human mutation

authors： Guillot L,Carré A,Szinnai G,Castanet M,Tron E,Jaubert F,Broutin I,Counil F,Feldmann D,Clement A,Polak M,Epaud R

更新日期：2010-02-01 00:00:00

abstract：:Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense mutation, c.1006C>T; p.R336C (p.Arg336Cys). We characterized the structure-function relationship of th...

journal_title：Human mutation

authors： Ismail HM,Krishnamoorthy N,Al-Dewik N,Zayed H,Mohamed NA,Giacomo VD,Gupta S,Häberle J,Thöny B,Blom HJ,Kruger WD,Ben-Omran T,Nasrallah GK

更新日期：2019-02-01 00:00:00

abstract：:Alpha-chain collagen molecules encoded by genes that include COL11A1 are essential for skeletal, ocular, and auditory function. COL11A1 variants have been reported in syndromes involving these organ systems. However, a description of the complete clinical spectrum is lacking, as evidenced by a recent association of au...

journal_title：Human mutation

authors： Rad A,Schade-Mann T,Gamerdinger P,Yanus GA,Schulte B,Müller M,Imyanitov EN,Biskup S,Löwenheim H,Tropitzsch A,Vona B

更新日期：2020-11-10 00:00:00

abstract：:The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β...

journal_title：Human mutation

authors： Schepers D,Tortora G,Morisaki H,MacCarrick G,Lindsay M,Liang D,Mehta SG,Hague J,Verhagen J,van de Laar I,Wessels M,Detisch Y,van Haelst M,Baas A,Lichtenbelt K,Braun K,van der Linde D,Roos-Hesselink J,McGillivray G,M

更新日期：2018-05-01 00:00:00

abstract：:Genomic variations with no apparent effect ("neutral polymorphisms") may have a significant effect on splicing. The effect of this type of mutation is difficult to spot, unless a functional assay is undertaken. In our study, DNA sequencing of a patient with clinically defined neurofibromatosis type 1 (NF1) showed only...

journal_title：Human mutation

authors： Raponi M,Upadhyaya M,Baralle D

更新日期：2006-03-01 00:00:00

abstract：:We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with Parkinson disease (PD) among Chinese patients, but the common worldwide rs34637584:G>A; p.G2019S mutation, was absent. Focusing exclusively on Han Chinese, we first ...

journal_title：Human mutation

authors： Tan EK,Peng R,Teo YY,Tan LC,Angeles D,Ho P,Chen ML,Lin CH,Mao XY,Chang XL,Prakash KM,Liu JJ,Au WL,Le WD,Jankovic J,Burgunder JM,Zhao Y,Wu RM

更新日期：2010-05-01 00:00:00

abstract：:The identification of mutations in the BRCA1 gene poses difficulties in achieving a screening outcome that satisfies the twin needs of speed and accuracy. These needs must also take into account the patient's family history and the statistical evaluation of the probability of detecting a mutation. Given the above, we ...

journal_title：Human mutation

authors： Hegde MR,Chong B,Fawkner MJ,Leary J,Shelling AN,Culling B,Winship I,Love DR

更新日期：2000-11-01 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：:Disease gene discovery has been transformed by affordable sequencing of exomes and genomes. Identification of disease-causing mutations requires sifting through a large number of sequence variants. A subset of the variants are unlikely to be good candidates for disease causation based on one or more of the following c...

journal_title：Human mutation

authors： Fuentes Fajardo KV,Adams D,NISC Comparative Sequencing Program.,Mason CE,Sincan M,Tifft C,Toro C,Boerkoel CF,Gahl W,Markello T

更新日期：2012-04-01 00:00:00

abstract：:The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding s...

journal_title：Human mutation

authors： Kuhrová V,Francová H,Zapletalová P,Freiberger T,Fajkusová L,Hrabincová E,Slováková R,Kozák L

更新日期：2001-09-01 00:00:00

abstract：:The detection of mutations in large and complex genes represents a practical challenge in research and diagnostic laboratories. Available methods are either time-consuming or lack sensitivity. Mutation detection in the factor VIII gene, responsible for haemophilia A, is hampered by its large size, its many exons, and ...

journal_title：Human mutation

authors： Freson K,Peerlinck K,Aguirre T,Arnout J,Vermylen J,Cassiman JJ,Matthijs G

更新日期：1998-01-01 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：:The mitochondrial mutation A3243G has been shown to be associated with a syndrome of diabetes mellitus and sensorineural hearing loss. Using a solid-phase-based sequencing method we have investigated the relation between the proportion of mutant mitochondrial genomes and the time of disease onset among members of thre...

journal_title：Human mutation

authors： Olsson C,Zethelius B,Lagerström-Fermér M,Asplund J,Berne C,Landegren U

更新日期：1998-01-01 00:00:00

abstract：:Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. HLCS is an enzyme that catalyzes biotin incorporation into carboxylases and histones. Since the first report of the cDNA sequence, 30 mutations in the HLCS gene have been reported. Mutations occur throughout the entire coding region excep...

journal_title：Human mutation

authors： Suzuki Y,Yang X,Aoki Y,Kure S,Matsubara Y

更新日期：2005-10-01 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：:Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, tw...

journal_title：Human mutation

authors： Grigelioniené G,Hagenäs L,Eklöf O,Neumeyer L,Haereid PE,Anvret M

更新日期：1998-01-01 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：:Galactocerebrosidase (GALC) is a lysosomal beta-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is also called globoid cell ...

journal_title：Human mutation

authors： Wenger DA,Rafi MA,Luzi P

更新日期：1997-01-01 00:00:00

abstract：:Cerebral cavernous malformations (CCMs) may cause recurrent headaches, seizures, and hemorrhagic stroke and have been associated with loss-of-function mutations in CCM1/KRIT1, CCM2, and CCM3/programmed cell death 10 (PDCD10). The CCM3/PDCD10 amino acid sequence does not reveal significant homologies to protein domains...

journal_title：Human mutation

authors： Voss K,Stahl S,Hogan BM,Reinders J,Schleider E,Schulte-Merker S,Felbor U

更新日期：2009-06-01 00:00:00

abstract：:Protein C (PC) is a key regulator of blood clotting and inflammation. Its inherited deficiency is associated with venous thromboembolism, and recombinant activated PC is currently used to increase survival in severe sepsis. The molecular basis of inherited PC deficiency is heterogeneous. Due to its multiple physiologi...

journal_title：Human mutation

authors： Rovida E,Merati G,D'Ursi P,Zanardelli S,Marino F,Fontana G,Castaman G,Faioni EM

更新日期：2007-04-01 00:00:00

abstract：:The 22q11.2 deletion syndrome (22q11DS) affects 1:4,000 live births and presents with highly variable phenotype expressivity. In this study, we developed an analytical approach utilizing whole-genome sequencing (WGS) and integrative analysis to discover genetic modifiers. Our pipeline combined available tools in order...

journal_title：Human mutation

authors： Chung JH,Cai J,Suskin BG,Zhang Z,Coleman K,Morrow BE

更新日期：2015-08-01 00:00:00