Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.,Human Genome Variation

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Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.
Human Genome Variation ( IF 1.0 ) Pub Date : 2020-02-04 , DOI: 10.1038/s41439-020-0090-6
Nao Takizaki ₁ , Yoshinori Tsurusaki ₂ , Kaoru Katsumata ₃ , Yumi Enomoto ₂ , Hiroaki Murakami ₁ , Koji Muroya ₄ , Hiroshi Ishikawa ₅ , Noriko Aida ₆ , Gen Nishimura ₇ , Kenji Kurosawa _{1,

2}

Affiliation

3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.

中文翻译：

新型 CUL7 双等位基因突变改变了 3M 综合征的骨骼表型。

3M综合征是一种常染色体隐性遗传疾病，其特征是严重生长迟缓、独特的面部特征和骨骼变化，包括细长的管状骨和高大的椎体。我们报告了一名由 CUL7 双等位基因新变体 c.1705_1708del 和 c.1989_1999del 引起的 3M 综合征日本患者。骨骼特征在新生儿早期与 3M 综合征一致，但到 2 岁时变得不那么明显。

更新日期：2020-02-04

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