Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome

Clin Genet. 2024 May;105(5):584-586. doi: 10.1111/cge.14514. Epub 2024 Mar 7.

Abstract

A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.

Keywords: CLPP; Perrault syndrome; deafness; developmental delay; ovarian dysgenesis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Gonadal Dysgenesis, 46,XX* / complications
  • Hearing Loss, Sensorineural* / diagnosis
  • Homozygote
  • Humans
  • Pedigree

Supplementary concepts

  • Gonadal dysgenesis XX type deafness