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A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

ABSTRACT: We describe a 9-year-old male patient with a 15q14 microdeletion including MEIS2. The patient was born with a ventricular septal defect and submucosal cleft. Mild developmental disability and autism spectrum disorder diagnosed in childhood were also considered to be consequences of MEIS2 haploinsufficiency. The relatively mild developmental delay and lack of additional phenotypic features in this patient indicate that only MEIS2 plays an important role in the observed phenotypic features in the heterozygous state.

SUBMITTER: Shimojima K

PROVIDER: S-EPMC5517666 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.

Shimojima Keiko K Ondo Yumiko Y Okamoto Nobuhiko N Yamamoto Toshiyuki T

Human genome variation 20170720

We describe a 9-year-old male patient with a 15q14 microdeletion including MEIS2. The patient was born with a ventricular septal defect and submucosal cleft. Mild developmental disability and autism spectrum disorder diagnosed in childhood were also considered to be consequences of MEIS2 haploinsufficiency. The relatively mild developmental delay and lack of additional phenotypic features in this patient indicate that only MEIS2 plays an important role in the observed phenot ...[more]

PMID: 28736618

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