一名青春期前身材矮小男孩的 IGFALS 基因出现 6-bp 缺失。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-07-26 DOI:10.1038/s41439-024-00285-w

Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura

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引用次数: 0

摘要

双倍性 IGFALS 变异会导致酸性亚基（ALS）缺乏症，其特征是生长激素抵抗，伴有或不伴有青春期延迟。在此，我们报告了一名青春期前的男孩，他的第四个 N-糖基化基团（c.1103_1108del, p.N368_S370delinsT）中存在 2 个氨基酸的同源缺失，且与父母血缘关系有关。他的身材矮小，与 ALS 缺乏症一致。该病例扩大了 IGFALS 的突变范围，包括只消除 ALS 的一个 N-糖基化位点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

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Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370delinsT) associated with parental consanguinity. He showed short stature consistent with ALS deficiency. This case expands the mutation spectrum of IGFALS to include the elimination of only one N-glycosylation motif of ALS.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks