Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

ABSTRACT:

Background

Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (KS2, MIM#300867), which accounts for only 5%-8% of KS. Previous studies suggested that female patients with KS2 may have a milder phenotype.

Method

We summarized the phenotype and genotype of KS2 patients who were diagnosed in Shanghai Children's Medical Center since July 2017 and conducted a 1:3 matched case-control study according to age and sex to investigate sex-specific differences between patients with and without KS2.

Results

There were 12 KS2 cases in this study, and 8 of them matched with 24 controls. The intelligence quoti

SUBMITTER: Wang Y 

PROVIDER: S-EPMC10875883 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature