【同一家庭2例骨性纤毛病】。

IF 0.6 4区医学 Q4 OBSTETRICS & GYNECOLOGY

Zeitschrift fur Geburtshilfe und Neonatologie Pub Date : 2025-08-01 DOI:10.1055/a-2663-7946

Georgi Stefanov Kirov, Frauke Schmidt, Senem Elena Alsat-Krenz, Flutura Dede

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引用次数: 0

摘要

纤毛是真核生物细胞上的薄延伸物。它们是由一种特殊的蛋白质运输机制-鞭毛内转运蛋白（IFT）形成的。IFT由两种蛋白质组成：复合体A和复合体b。IFT-A复合体（IFT43、IFT121、IFT122、IFT139、IFT140和IFT144）基因的突变可导致骨骼肌纤毛病的发生。包括Sensenbrenner、Jeune和短肋多指综合征[1,2]。我们报告两例不同的纤毛病在一个不相关的家庭；父母双方都是IFT122基因致病性突变的杂合携带者。

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[Two cases of skeletal ciliopathies in one family].

Cilia are thin extensions on the cells of eukaryotic organisms. They are formed by a special protein transport mechanism - the intraflagellar transporter (IFT). The IFT consists of two proteins: complex A and complex B. Mutations in the genes of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) lead to the development of skeletal ciliopathies. These include Sensenbrenner, Jeune, and short-rib polydactyly syndrome [1,2]. We report two cases of different ciliopathies in a non-related family; both parents are heterozygous carriers of a pathogenic mutation in the IFT122 gene.

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