GALNT3 基因新变异引起的高磷血症性家族性肿瘤性钙化症。
Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene.
机构信息
Genetic Foundation of Tehran, Solaleh Diagnostic Laboratory, Tehran, Iran.
Department of Clinical Genetics, Institute of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
出版信息
J Endocrinol Invest. 2020 Aug;43(8):1125-1130. doi: 10.1007/s40618-020-01203-x. Epub 2020 Mar 3.
AIM
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by autosomal recessive variants in GALNT3, FGF23, and KL leading to progressive calcification of soft tissues and subsequent clinical effects. The aim of this was to study the cause of HFTC in an Iranian family.
PATIENTS AND METHODS
Four generations of a family with HFTC were studied for understanding the genetic pattern of the disease. Whole exome sequencing was applied on genomic DNA of the proband. Based on its result, genetically altered sequences were checked in his family through sanger sequencing. Then bioinformatics approaches as well as co-segregation analysis were applied to validate the genetic alteration.
RESULTS
A novel homozygous variant in exon four of GALNT3, namely p.R261Q was found. The parents and sister were carriers.
CONCLUSION
To our knowledge, it is the first-reported Iranian family with GALNT3-CDG novel variant.
目的
高磷血症性家族性肿瘤性钙质沉着症（HFTC）是一种罕见的内分泌疾病，由 GALNT3、FGF23 和 KL 的常染色体隐性变异引起，导致软组织进行性钙化和随后的临床影响。本研究旨在探讨伊朗一个家族 HFTC 的病因。
患者和方法
对一个 HFTC 家族的四代人进行了研究，以了解疾病的遗传模式。对先证者的基因组 DNA 进行了全外显子组测序。根据其结果，通过 Sanger 测序在其家族中检查了遗传改变的序列。然后应用生物信息学方法和共分离分析来验证遗传改变。
结果
发现了 GALNT3 外显子 4 中的一个新的纯合变异，即 p.R261Q。父母和姐姐是携带者。
结论
据我们所知，这是首例报道的伊朗 GALNT3-CDG 新型变异家族。
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