Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene

Ooi JCE 1 , Azman A 2 , Chan MY 3 , Toh ESY 1 , Seo GH 4 , Kim JH 4 Show all authors , Yakob Y 2 , Chia YK 1

Affiliations 

  • 1 Neurology Unit, Queen Elizabeth Hospital, Kota Kinabalu, Malaysia
  • 2 Molecular Diagnostics Unit, Institute for Medical Research, Kuala Lumpur, Malaysia
  • 3 Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
  • 4 3billion Inc., Seoul, South Korea
Clin Genet, 2024 Feb;105(2):228-230.
PMID: 37903629 DOI: 10.1111/cge.14448

Abstract

A novel homozygous variant in KIFBP was identified in a consanguineous family with four sibs affected by Goldberg-Sphrintzen Syndrome (GOSHS). We report for the first time, early-adulthood-onset progressive ataxia, opthalmoparesis, and hypogonadotropic hypogonadism in GOSHS.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

MeSH terms
Similar publications