Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

ABSTRACT:

Purpose

Genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical spectrum called KAT6B disorders, whose variable expressivity is increasingly being recognized.

Methods

We herein present the phenotypes of 32 previously unreported individuals with a molecularly confirmed diagnosis of a KAT6B disorder, report 24 new pathogenic KAT6B variants, and review phenotypic information available on all published individuals with this condition. We also suggest a classification of clinical subtypes within the KAT6B disorder spectrum.

Results

We demonstrate that cerebral anomalies, optic nerve hypoplasia, neurobehavioral difficulties, and distal limb anomalies other than long thumbs and great to

SUBMITTER: Zhang LX 

PROVIDER: S-EPMC7737399 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature