一种导致高磷血症性家族性肿瘤性钙化的GALNT3突变。
A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
作者信息
Wu Aijia, Yang Bangxiang, Yu Xijie
机构信息
Department of Endocrinology, Laboratory of Endocrinology and Metabolism, Rare Disease Center, West China Hospital, Sichuan University, Chengdu 610041, China.
Departement of Pain Management, West China Hospital, Sichuan University No 37, Guoxuexiang, Chengdu, Sichuan, PRC.
出版信息
Mol Genet Metab Rep. 2024 Jul 31;40:101128. doi: 10.1016/j.ymgmr.2024.101128. eCollection 2024 Sep.
UNLABELLED
Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is an autosomal recessive disorder. This study investigates the etiology of HFTC in offspring from consanguineous parents.
METHODS
Clinical assessment, imaging, and direct sequencing were utilized to elucidate the condition. Previously reported cases were also reviewed.
RESULT
We identified a consanguineous Chinese family with HFTC caused by an interesting homozygous G to A substitution in GALNT3 (c.1626 + 1G > A). The parents were carriers.
CONCLUSION
This study represents the first report of HFTC in a consanguineous Chinese family due to an interesting GALNT3 mutation. We reviewed known GALNT3 variants and associated clinical features of calcification disorders. The phenotypic difference between homozygous and complex heterozygous mutations is not clinically significant. Gene mutations affect the function of proteins mainly by affecting their binding to polyvalent ligands.
未标注
高磷血症性家族性肿瘤性钙化症（HFTC）是一种常染色体隐性疾病。本研究调查了近亲结婚父母所生后代中HFTC的病因。
方法
采用临床评估、影像学检查和直接测序来阐明病情。还回顾了先前报道的病例。
结果
我们鉴定出一个中国近亲家庭，其HFTC由GALNT3基因中一个有趣的纯合G到A替换（c.1626 + 1G > A）引起。父母是携带者。
结论
本研究首次报道了一个中国近亲家庭中因有趣的GALNT3突变导致的HFTC。我们回顾了已知的GALNT3变体以及钙化疾病的相关临床特征。纯合突变和复合杂合突变之间的表型差异在临床上并不显著。基因突变主要通过影响蛋白质与多价配体的结合来影响其功能。
Zotero 插件