A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

Congenit Anom (Kyoto). 2017 May;57(3):86-88. doi: 10.1111/cga.12196.

Authors

Yo Niida¹, Yusuke Mitani², Mondo Kuroda², Ayano Yokoi², Hiroyasu Nakagawa², Akiko Kato²

Affiliations

¹ Division of Clinical Genetics, Multidisciplinary Medical Center, Kanazawa Medical University Hospital, Ishikawa, Japan.
² Department of Pediatrics, Institute of Medical, Pharmaceutical and Health Sciences, School of Medicine, Kanazawa University, Ishikawa, Japan.

PMID: 27696664
DOI: 10.1111/cga.12196

Abstract

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (MIM# 603736) and genitopatellar syndrome (GPS) (MIM#606170) are allelic diseases caused by KAT6B mutation. Genotype-phenotype correlation is assumed, but a few patients manifest overlapping features of both syndromes. Here we report the case of a boy with SBBYSS. He had a KAT6B mutation previously reported in typical SBBYSS, but he also manifested severe developmental delay, as well as genital features and laryngomalacia requiring tracheostomy that conformed to GPS.

Keywords: Genitopatellar syndrome; Genotype-phenotype correlation; KAT6B; Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS).

Publication types

Case Reports

MeSH terms

Alleles
Blepharophimosis / diagnosis*
Blepharophimosis / genetics*
Congenital Hypothyroidism / diagnosis*
Congenital Hypothyroidism / genetics*
Craniofacial Abnormalities / diagnosis
DNA Mutational Analysis
Diagnosis, Differential
Exons
Facies
Gene Duplication*
Genetic Association Studies
Heart Defects, Congenital / diagnosis*
Heart Defects, Congenital / genetics*
Histone Acetyltransferases / genetics*
Humans
Infant, Newborn
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Inverted Repeat Sequences*
Joint Instability / diagnosis*
Joint Instability / genetics*
Kidney / abnormalities
Male
Mutation
Patella / abnormalities
Phenotype
Psychomotor Disorders / diagnosis
Radiography
Scrotum / abnormalities
Ultrasonography, Prenatal
Urogenital Abnormalities / diagnosis

Substances

Histone Acetyltransferases
KAT6B protein, human

Supplementary concepts

Genitopatellar Syndrome
Young Simpson syndrome