Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.

ABSTRACT:

Background

KBG syndrome, a rare autosomal disorder characterised by distinctive craniofacial and skeletal features and developmental delay, is caused by haploinsufficiency of the ANKRD11 gene.

Results

Here we describe two siblings with multiple symptoms characteristic of KBG and their mother with a milder phenotype. In the siblings, array-based comparative genomic hybridization (array CGH) identified an intragenic microduplication affecting ANKRD11 that was absent from the parents' array CGH profiles. Microsatellite analysis revealed the maternal origin of the rearrangement and interphase fluorescent in situ hybridization (i-FISH) experiments identified the rearrangement in low-level mosaicism in the mother. Molecular characterisation of the duplication allele demonstrated t

SUBMITTER: Crippa M 

PROVIDER: S-EPMC4383199 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature