Whole-exome sequencing revealed a novel ERCC8 variant in an Iranian large family with Cockayne syndrome

IF 0.5 Q4 GENETICS & HEREDITY

Human Gene Pub Date : 2024-02-01 DOI:10.1016/j.humgen.2024.201261

Hamidreza Ashrafzadeh , Farzaneh Tafvizi , Nasrin Ghasemi , Mohammad Yahya Vahidi Mehrjardi , Vahid Naseh

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Abstract

Background

Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. The excision repair cross complementing protein group 6 (ERCC8) gene, which codes for the CS group A (CSA) protein, is usually mutated in cases of CS.

Method

We show two Iranian families who have significant speech delay, microcephaly, developmental delay, and notable growth failure. We have discovered a unique homozygous missense variant (c.742G > T) in CSA in an Iranian family with CS, which we discovered using whole exome sequencing as well.

Results

In two related probands, we found a homozygous variant (c.742G > T) in the ERCC8 gene that we believe to be a unique pathogenic mutation.

Conclusion

WES results together with the characteristic clinical manifestations of Cockayne syndrome, provided an accurate diagnosis for two families. Also, our study identified novel variants in Iranian families.

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全基因组测序发现一个伊朗科凯恩综合征大家族中存在新型 ERCC8 变体

背景科凯恩综合征（Cockayne Syndrome，CS）是一种罕见的侏儒症，其特征是进行性早衰。切除修复交叉互补蛋白第 6 组（ERCC8）基因编码 CS A 组（CSA）蛋白，通常在 CS 病例中发生突变。我们在一个伊朗 CS 患者家庭中发现了一个独特的 CSA 同源错义变异（c.742G >T），我们还通过全外显子组测序发现了该变异。结果在两个相关的探究者中，我们发现了 ERCC8 基因中的一个同源变异（c.742G >T），我们认为这是一个独特的致病突变。此外，我们的研究还发现了伊朗家族中的新型变异基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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