Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.

ABSTRACT:

Background

Kallmann syndrome (KS) is a common type of idiopathic hypogonadotropic hypogonadism. To date, more than 30 genes including ANOS1 and FGFR1 have been identified in different genetic models of KS without affirmatory genotype-phenotype correlation, and novel mutations have been found.

Methods

A total of 35 unrelated patients with clinical features of disorder of sex development were recruited. Custom-panel sequencing or whole-exome sequencing was performed to detect the pathogenic mutations. Sanger sequencing was performed to verify single-nucleotide variants. Copy number variation-sequencing (CNV-seq) was performed to determine CNVs. The pathogenicity of the identified variant was predicted in silico. mRNA transcript analysis and minigene reporter assay were perform

SUBMITTER: Chu G 

PROVIDER: S-EPMC9976430 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature