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

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

Acknowledgment

The authors are deeply grateful to the patient and his family for participating in this study.

Funding

This research was supported by the National Natural Science Foundation of China (Grant Nos. 81201353 and 81472051).

Declaration of interest

The authors declare that they have no conflicts of interest related to this study. The authors alone are responsible for the content and writing of the article.