Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly

Am J Med Genet A. 2020 Jul;182(7):1824-1828. doi: 10.1002/ajmg.a.61592. Epub 2020 Apr 24.

Authors

Eleanor G Ludington¹, Sui Yu², Ha Ae Bae¹, Christopher P Barnett¹

Affiliations

¹ Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
² Genetic Medicine, SA Pathology, North Adelaide, South Australia, Australia.

PMID: 32329157
DOI: 10.1002/ajmg.a.61592

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Cell Adhesion Molecules, Neuronal / genetics*
Child
Chromosomes, Human, Pair 2 / genetics
Corpus Callosum / diagnostic imaging*
Corpus Callosum / pathology
Female
Gene Deletion
Humans
Intellectual Disability / complications
Intellectual Disability / diagnostic imaging
Intellectual Disability / genetics*
Intellectual Disability / pathology
Microcephaly / complications
Microcephaly / diagnostic imaging
Microcephaly / genetics*
Microcephaly / pathology
Mutation / genetics

Substances

CNTNAP5 protein, human
Cell Adhesion Molecules, Neuronal