A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.

ABSTRACT:

Background

Haploinsufficiency of the Lysine Methyltransferase 2C (KMT2C) gene results in the autosomal dominant disorder, Kleefstra syndrome 2. It is an extremely rare neurodevelopmental condition, with 14 previous reports describing varied clinical manifestations including dysmorphic features, delayed psychomotor development and delayed growth.

Methods

Here, we describe a female with global developmental delay, attention deficit disorder, dyspraxia, short stature and subtle non-specific dysmorphic features. To identify causative mutations, whole exome sequencing was performed on the proband and her younger brother with discrete clinical presentation.

Results

Whole exome sequencing identified a novel de novo heterozygous 11 bp deletion in KMT2C (c.1759_1769del), resul

SUBMITTER: Whitford W 

PROVIDER: S-EPMC10767577 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature