Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Yonsei Med J. 2019 Apr;60(4):395-398. doi: 10.3349/ymj.2019.60.4.395.

Abstract

Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.

Keywords: Genitopatellar syndrome; KAT6B gene.

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Exome Sequencing / methods*
  • Female
  • Histone Acetyltransferases / genetics*
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Kidney / abnormalities*
  • Musculoskeletal Abnormalities / genetics*
  • Mutation / genetics*
  • Patella / abnormalities*
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / genetics*
  • Republic of Korea
  • Scrotum / abnormalities*
  • Urogenital Abnormalities / diagnosis
  • Urogenital Abnormalities / genetics*

Substances

  • Histone Acetyltransferases
  • KAT6B protein, human

Supplementary concepts

  • Absent patella
  • Genitopatellar Syndrome