GALNT3 基因突变导致高磷血症家族性肿瘤性钙化症

IF 1.8 4区医学 Q3 GENETICS & HEREDITY Molecular Genetics and Metabolism Reports Pub Date : 2024-07-31 DOI:10.1016/j.ymgmr.2024.101128

Aijia Wu , Bangxiang Yang , Xijie Yu

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引用次数: 0

摘要

高磷血症家族性肿瘤性钙化症（HFTC）是一种常染色体隐性遗传疾病。本研究调查了高磷血症家族性肿瘤性钙化症在近亲结婚后代中的病因。通过临床评估、影像学检查和直接测序来阐明病情。研究还回顾了之前报道的病例。我们发现了一个由 GALNT3（c.1626 + 1G > A）中一个有趣的 G 到 A 的同源替换引起的 HFTC 的中国近亲家庭。父母均为携带者。本研究首次报道了一个中国近亲家庭中因有趣的 GALNT3 基因突变而导致的高频四联症。我们回顾了已知的 GALNT3 变异和钙化疾病的相关临床特征。同卵突变和复杂杂合突变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蛋白质的功能。

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A GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis

AimHyperphosphatemic 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.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.