De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

ABSTRACT:

Background

Say-Barber-Biesecker-Young-Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males. It has been shown that mutations in the KAT6B gene, which is a lysine acetyltransferase-encoding gene, have been associated with SBBYS syndrome. All the known variants are dominant de novo mutations that result in protein truncation.

Case presentation

A 14-year-old Iranian Azeri boy with an intellectual disability, distinct dysmorphic facial fea

SUBMITTER: Davarnia B 

PROVIDER: S-EPMC10768154 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature