A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.,Molecular Genetics & Genomic Medicine

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A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-09-14 , DOI: 10.1002/mgg3.1496
Lianlian Yang _{1,

2} , Fan Yang _{1,

2}

Affiliation

Zhu‐Tokita‐Takenouchi‐Kim (ZTTK, OMIM# 617140) syndrome is a rare, autosomal dominant genetic disorder caused by heterozygous variants in the SON gene (OMIM#182465, GenBank#NC_000021.9). There are only 33 cases and 26 causative SON variants reported to date since the first report in 2015. Here, we report a new case of ZTTK syndrome and a de novo disease‐causing SON variant.

中文翻译：

SON基因的从头杂合变体与Zhu-Tokita-Takenouchi-Kim综合征相关。

Zhu-Tokita-Takenouchi-Kim（ZTTK，OMIM＃617140）综合征是由SON基因（OMIM＃182465，GenBank＃NC_000021.9）的杂合变异体引起的罕见的常染色体显性遗传疾病。自2015年首次报告以来，迄今仅报告了33例病例和26种致病性SON变体。在这里，我们报告了新的ZTTK综合征病例和从头引发SON的SON变体。

更新日期：2020-11-16

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