Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature

Int J Pediatr Otorhinolaryngol. 2017 Dec:103:109-112. doi: 10.1016/j.ijporl.2017.10.017. Epub 2017 Oct 12.

Abstract

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.

Keywords: ANKRD11; Hearing loss; KBG syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Audiometry
  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / genetics
  • Child
  • Facies
  • Female
  • Hearing Loss, Conductive / etiology*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Mutation
  • Phenotype
  • Repressor Proteins / genetics*
  • Tooth Abnormalities / complications
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / genetics

Substances

  • ANKRD11 protein, human
  • Repressor Proteins

Supplementary concepts

  • KBG syndrome