Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

ABSTRACT:

Background

We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify causative pathogenic mutations and/or copy number variations.

Results

Although proband's, diabetes mellitus occurred during childhood, type 1 diabetes was unlikely due to the absence of detectable autoimmunity. DNA microarray analysis first identified a de novo, heterozygous deletion at the chr16q24.2 locus. Previously, thirty-three pathogenic or likely pathogenic deletions encompassing this locus have been reported in patients presenting with intellectual deficiency, obesity and/or lymphedema but not with diabetes. Of note, the deletion

SUBMITTER: Le Collen L 

PROVIDER: S-EPMC8887189 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature