Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
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DOI：
10.1002/humu.24391
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发表时间：
2022-09
期刊：
影响因子：
3.9
通讯作者：
Li, Qiaoli
中科院分区：
文献类型：
--
作者：
Ralph, Douglas;Levine, Michael A.;Richard, Gabriele;Morrow, Michelle M.;Flynn, Elizabeth K.;Uitto, Jouni;Li, Qiaoli
关键词：
ENPP1编码ENPP1， ENPP1是一种外核苷酸酶，可催化ATP水解为AMP和无机焦磷酸（PPi），后者是一种内源性血浆蛋白，可在生理上防止结缔组织异位钙化。ENPP1突变已被报道与一系列人类遗传疾病相关。在这一突变更新中，我们全面回顾了ENPP1与三种常染色体隐性遗传病相关的所有致病变异、可能致病变异和未知意义的变异——婴儿全身性动脉钙化（GACI）、常染色体隐性低磷性佝偻病2型（ARHR2）和弹性假黄瘤（PXE），以及主要常染色体显性科尔病。使用最新的ACMG指南确定所有变体的分类。共有140个ENPP1变异，包括133个先前报道的变异和7个新变异，其中错义变异最为普遍（70.0%,98/140）。虽然致病性变异广泛分布在ENPP1患者中，没有明显的基因型-表型相关性，但与Cole病相关的9个变异中有8个局限于对ENPP1蛋白同源二聚化至关重要的somatomedin- b样（SMB）结构域。
ENPP1 encodes ENPP1, an ectonucleotidase catalyzing hydrolysis of ATP to AMP and inorganic pyrophosphate (PPi), an endogenous plasma protein physiologically preventing ectopic calcification of connective tissues. Mutations in ENPP1 have been reported in associated with a range of human genetic diseases. In this mutation update, we provide a comprehensive review of all the pathogenic variants, likely pathogenic variants, and variants of unknown significance in ENPP1 associated with three autosomal recessive disorders – generalized arterial calcification of infancy (GACI), autosomal recessive hypophosphatemic rickets type 2 (ARHR2), and pseudoxanthoma elasticum (PXE), as well as with a predominantly autosomal dominant Cole disease. The classification of all variants is determined using the latest ACMG guidelines. A total of 140 ENPP1 variants were curated consisting of 133 previously reported variants and 7 novel variants, with missense variants being the most prevalent (70.0%, 98/140). While the pathogenic variants are widely scattered in ENPP1 of patients without apparent genotype-phenotype correlation, eight out of nine variants associated with Cole disease are confined to the somatomedin-B-like (SMB) domains critical for homo-dimerization of the ENPP1 protein.
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影响因子：
11.1
作者：
Dedinszki D;Szeri F;Kozák E;Pomozi V;Tőkési N;Mezei TR;Merczel K;Letavernier E;Tang E;Le Saux O;Arányi T;van de Wetering K;Váradi A
通讯作者：
Váradi A
影响因子：
2.4
作者：
Brunod I;Tosello B;Hassid S;Gire C;Thomachot L;Panuel M
通讯作者：
Panuel M
影响因子：
6.5
作者：
Chourabi, Marwa;Liew, Mei Shan;Reversade, Bruno
通讯作者：
Reversade, Bruno
影响因子：
4.3
作者：
Apschner A;Huitema LF;Ponsioen B;Peterson-Maduro J;Schulte-Merker S
通讯作者：
Schulte-Merker S
DOI：
10.1016/j.jbc.2021.101526
发表时间：
2022-03
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Borza R;Salgado-Polo F;Moolenaar WH;Perrakis A
通讯作者：
Perrakis A