Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, Sandra Kenis, Lina Dom, Geert Mortier, Liesbeth Rooms, R Frank Kooy

Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium. nathalie.van.der.aa@uza.be

Autism research : official journal of the International Society for Autism Research 2012 Aug

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In a developmentally delayed girl with an autism spectrum disorder, Single nucleotide polymorphism (SNP) array analysis showed a de novo 280 kb deletion on chromosome 16q23.2 involving two genes, GAN and CMIP. Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient. CMIP was recently implicated in the etiology of specific language impairment by genome-wide association analysis. It modulates phonological short-term memory and hence plays an important role in language acquisition. Overlaps of specific language impairment and autism have been debated in the literature regarding the phenotypical language profile as well as etiology. Our patient illustrates that haploinsufficiency of CMIP may contribute to autism spectrum disorders. Our finding further supports the existence of a genetic overlap in the etiology of specific language impairment and autism. © 2012 International Society for Autism Research, Wiley Periodicals, Inc.

Citation

Nathalie Van der Aa, Geert Vandeweyer, Edwin Reyniers, Sandra Kenis, Lina Dom, Geert Mortier, Liesbeth Rooms, R Frank Kooy. Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2. Autism research : official journal of the International Society for Autism Research. 2012 Aug;5(4):277-81