一个家族中的 Woodhouse-Sakati 综合征与 DCAF17 基因的纯合起始缺失突变有关。
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
机构信息
Department of Biotechnology, COMSATS University Islamabad, Abbottabad, Pakistan.
Department of Biochemistry, Faculty of Biological Sciences, Qauid-i-Azam University, Islamabad, Pakistan.
出版信息
Clin Exp Dermatol. 2020 Mar;45(2):159-164. doi: 10.1111/ced.14046. Epub 2019 Aug 28.
BACKGROUND
Woodhouse-Sakati syndrome (WSS) is a rare neuroendocrine and ectodermal disorder inherited in an autosomal recessive pattern. The syndrome presents prominent clinical features, including alopecia, neuroendocrine defects, neurological findings and progressive hearing loss. The condition results from mutations in the DCAF17 gene.
AIMS
To search for the underlying genetic defect in a Pakistani family with WSS phenotypes.
METHODOLOGY
Whole exome sequencing was used to search for the disease-causing variant.
RESULTS
Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17.
CONCLUSION
This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17.
背景
伍德豪斯-萨卡蒂综合征（WSS）是一种罕见的神经内分泌和外胚层疾病，呈常染色体隐性遗传模式。该综合征表现出显著的临床特征，包括脱发、神经内分泌缺陷、神经学发现和进行性听力损失。该病是由 DCAF17 基因突变引起的。
目的
在一个具有 WSS 表型的巴基斯坦家庭中寻找潜在的遗传缺陷。
方法
使用外显子组测序寻找致病变异。
结果
外显子组数据分析显示 DCAF17 基因存在起始密码子缺失序列变异（c.1A>G，p.M1?）。
结论
该变异预计会导致 DCAF17 多肽翻译的终止。据我们所知，这是在 DCAF17 中首次发现的起始密码子缺失变异。
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