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Severe intellectual disability and autistic features associated with microduplication 2q23.1.

ABSTRACT: We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved.

SUBMITTER: Chung BH

PROVIDER: S-EPMC3306850 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature

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Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Chung Brian H Y BH Mullegama Sureni S Marshall Christian R CR Lionel Anath C AC Weksberg Rosanna R Dupuis Lucie L Brick Lauren L Li Chumei C Scherer Stephen W SW Aradhya Swaroop S Stavropoulos D James DJ Elsea Sarah H SH Mendoza-Londono Roberto R

European journal of human genetics : EJHG 20111116 4

We report on two patients with developmental delay, hypotonia, and autistic features associated with duplications of chromosome region 2q23.1-2q23.2 detected by chromosome microarray analysis. The duplications include one OMIM Morbid Map gene, MBD5, as well as seven known RefSeq genes (ACVR2A, ORC4L, EPC2, KIF5C, MIR1978, LYPD6B, and LYPD6). MBD5 lies in the minimum area of overlap of the 2q23.1 microdeletion syndrome. This report provides the first detailed clinical examination of two individua ...[more]

PMID: 22085900

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