De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome

Fetal Pediatr Pathol. 2017 Apr;36(2):130-138. doi: 10.1080/15513815.2017.1281364. Epub 2017 Feb 7.

Abstract

Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene. To the best of our knowledge, this is the first report of KAT6B gene mutation in any Chinese individual. This work expands the mutant phenotypic spectrum of the KAT6B gene.

Keywords: KAT6B gene; de novo mutation; short stature; targeted next generation sequencing.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Blepharophimosis / diagnosis
  • Blepharophimosis / genetics*
  • Blepharophimosis / pathology*
  • Child, Preschool
  • Codon, Nonsense / genetics
  • Congenital Hypothyroidism / diagnosis
  • Congenital Hypothyroidism / genetics*
  • Congenital Hypothyroidism / pathology*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology*
  • Exons / genetics
  • Facies
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology*
  • Histone Acetyltransferases / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology*
  • Joint Instability / diagnosis
  • Joint Instability / genetics*
  • Joint Instability / pathology*
  • Kidney / abnormalities*
  • Kidney / pathology
  • Male
  • Mutation / genetics*
  • Patella / abnormalities*
  • Patella / pathology
  • Phenotype
  • Psychomotor Disorders / diagnosis
  • Psychomotor Disorders / genetics*
  • Psychomotor Disorders / pathology*
  • Scrotum / abnormalities*
  • Scrotum / pathology
  • Urogenital Abnormalities / diagnosis
  • Urogenital Abnormalities / genetics*
  • Urogenital Abnormalities / pathology*

Substances

  • Codon, Nonsense
  • Histone Acetyltransferases
  • KAT6B protein, human

Supplementary concepts

  • Genitopatellar Syndrome
  • Young Simpson syndrome