Identification of a p.Trp403* nonsense variant in PHEX causing X-linked hypophosphatemia by inhibiting p38 MAPK signaling [0.03%]
p.Trp403*onsense变异通过抑制p38 MAPK信号转导引起X连锁低磷血症PHEX基因缺陷症的鉴定
Wei Li,Lingfang Tan,Xin Li et al.
Wei Li et al.
X-linked hypophosphatemia (XLH) is the most common hereditary rickets, caused by mutations in PHEX encoding the phosphate regulating endopeptidase homolog X-linked. Here, we report a nonsense variant in exon 11 of PHEX (c.1209G>A p.Trp403*)...
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect [0.03%]
非肌节蛋白缺失突变导致的非致密型心肌病：1A卷曲螺旋杆区段新型顺式突变导致严重丝状装配缺陷
Andrey V Marakhonov,Andreas Brodehl,Roman P Myasnikov et al.
Andrey V Marakhonov et al.
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated with left ventricular hypertrabeculation (LVHT). Here, we per...
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants [0.03%]
D-2-羟基谷氨酸尿1型：D2HGDH错义突变的功能分析
Ana Pop,Eduard A Struys,Erwin E W Jansen et al.
Ana Pop et al.
D-2-hydroxyglutaric aciduria Type I (D-2-HGA Type I), a neurometabolic disorder with a broad clinical spectrum, is caused by recessive variants in the D2HGDH gene encoding D-2-hydroxyglutarate dehydrogenase (D-2-HGDH). We and others detecte...
Paras Garg,Andrew J Sharp
Paras Garg
While many studies have led to the identification of rare sequence variants linked with susceptibility to autism and schizophrenia, the contribution of rare epigenetic variations (epivariations) in these disorders remains largely unexplored...
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations [0.03%]
粘脂贮积病II型、IIIα/β型和IIIγ型的溶酶体贮积病：GNPTAB和GNPTG突变最新研究进展
Renata Voltolini Velho,Frederike L Harms,Tatyana Danyukova et al.
Renata Voltolini Velho et al.
Mutations in the GNPTAB and GNPTG genes cause mucolipidosis (ML) type II, type III alpha/beta, and type III gamma, which are autosomal recessively inherited lysosomal storage disorders. GNPTAB and GNPTG encode the α/β-precursor and the γ...
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation [0.03%]
丙酮酸羧化酶缺乏症型A和型C：PC基因5种新致病突变的特征及基因表型相关性分析
Emanuele G Coci,Vytautas Gapsys,Natasha Shur et al.
Emanuele G Coci et al.
Pyruvate carboxylase deficiency (PCD) is caused by biallelic mutations of the PC gene. The reported clinical spectrum includes a neonatal form with early death (type B), an infantile fatal form (type A), and a late-onset form with isolated ...
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants [0.03%]
MEN1错义变异解释的ACMG-AMP解读框架调整建议
Pauline Romanet,Marie-Françoise Odou,Marie-Odile North et al.
Pauline Romanet et al.
In 2015, the ACMG-AMP guidelines provided a general procedure for the objective and reproducible classification of genomic variants. While the benefits of this framework are of major importance, its adaptation for locus-specific use is need...
Comparative Study
Human mutation. 2019 Jun;40(6):661-674. DOI:10.1002/humu.23746 2019
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality [0.03%]
编码第970密码子内的两个CFTR突变对氯通道功能的不同影响
Felice Amato,Paolo Scudieri,Ilaria Musante et al.
Felice Amato et al.
Pharmacological rescue of mutant cystic fibrosis transmembrane conductance regulator (CFTR) in cystic fibrosis (CF) depends on the specific defect caused by different mutation classes. We asked whether a patient with the rare p.Gly970Asp (c...
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system [0.03%]
利用酿酒酵母体系对CHEK2变异体的功能表征
Angeliki Delimitsou,Florentia Fostira,Despoina Kalfakakou et al.
Angeliki Delimitsou et al.
Genetic testing for cancer predisposition leads to the identification of a number of variants with uncertain significance. To some extent, variants of BRCA1/2 have been classified, in contrast to variants of other genes. CHEK2 is a typical ...
UniProt genomic mapping for deciphering functional effects of missense variants [0.03%]
利用UniProt基因组定位解读错义变异的功能效应
Peter B McGarvey,Andrew Nightingale,Jie Luo et al.
Peter B McGarvey et al.
Understanding the association of genetic variation with its functional consequences in proteins is essential for the interpretation of genomic data and identifying causal variants in diseases. Integration of protein function knowledge with ...