A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome.

ABSTRACT:

Summary

Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism with coexisting anosmia or hyposmia along with potential other phenotypic abnormalities depending on the specific genetic mutation involved. Several genetic mutations have been described to cause KS. The ANOS1 (KAL1) gene is responsible for 8% of mutations causing KS. A 17-year-old male presented to our clinic with delayed puberty and hyposmia, along with a family history suggestive of hypogonadism in his maternal uncle. Genetic testing for KS revealed complete exon 3 deletion in the ANOS1 gene. To the best of our knowledge, this specific mutation has not been previously described in the literature.

Learning points

Missense and frameshift mutations in the KA

SUBMITTER: Arora S 

PROVIDER: S-EPMC10337840 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature