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Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree

Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of… Click to show full abstract

Cystic fibrosis (CF) is an autosomal recessive disorder rarely found in Asian populations. Most males with CF are infertile because of obstructive azoospermia (OA) caused by congenital bilateral absence of the vas deferens (CBAVD). Compound heterozygous mutations of cystic fibrosis transmembrane conductance regulator (CFTR) are among the most common pathogenic factors in CBAVD. However, few genealogical analyses have been performed.

Keywords: congenital bilateral; vas deferens; bilateral absence; absence vas; compound heterozygous; heterozygous mutations

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2024

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