新型双等位基因突变改变3M综合征的骨骼表型。
Novel biallelic mutations alter the skeletal phenotype of 3M syndrome.
作者信息
Takizaki Nao, Tsurusaki Yoshinori, Katsumata Kaoru, Enomoto Yumi, Murakami Hiroaki, Muroya Koji, Ishikawa Hiroshi, Aida Noriko, Nishimura Gen, Kurosawa Kenji
机构信息
1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
2Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
出版信息
Hum Genome Var. 2020 Feb 4;7:1. doi: 10.1038/s41439-020-0090-6. eCollection 2020.
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 . Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.
3M综合征是一种常染色体隐性疾病，其特征为严重生长发育迟缓、独特的面部特征以及骨骼变化，包括长而纤细的管状骨和高大的椎体。我们报告了一名日本患者，其3M综合征由双等位基因新型变体c.1705_1708del和c.1989_1999del引起。骨骼特征在新生儿早期与3M综合征相符，但在2岁时变得不那么明显。
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