A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

doi:10.1155/humu/7635300

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Article

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation - 1 Jan 2026

Li Ming, Tao Wen, Ji Qingshan, Yan Di, Zhang Chen, Zhang Qinyi, Jiang Ping, Qiu Jun, Wen Jie, Xu Bo, Bai Shun, Jiang Xiaohua

Abstract excerpt

Primary ciliary dyskinesia (PCD) and multiple morphological abnormalities of the sperm flagella (MMAF) frequently co-occur in male infertility. However, the genetic basis of this syndromic presentation remains unclear. Using whole-exome sequencing, we identified a novel homozygous ARL2BP splice-site mutation (c.294-2A>G) in a 23-year-old infertile male from a consanguineous family who presented with syndromic PCD...

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