一名青春期前身材矮小男孩中IGFALS基因纯合性6碱基对缺失
Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.
作者信息
Doi Hibiki, Kageyama Ikuko, Katoh-Fukui Yuko, Hattori Atsushi, Fukami Maki, Shimura Naoto
机构信息
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo, Japan.
出版信息
Hum Genome Var. 2024 Jul 26;11(1):27. doi: 10.1038/s41439-024-00285-w.
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.
双等位基因IGFALS变异导致酸不稳定亚基（ALS）缺乏，其特征为生长激素抵抗，伴或不伴有青春期延迟。在此，我们报告一名青春期前男孩，其第四N-糖基化基序内存在纯合的2个氨基酸缺失（c.1103_1108del，p.N368_S370delinsT），且父母为近亲结婚。他表现出与ALS缺乏一致的身材矮小。该病例扩展了IGFALS的突变谱，使其包括仅消除ALS的一个N-糖基化基序的情况。
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