Dom, Lina

Kenis, Sandra

Kooy, Frank

Mortier, Geert

Reyniers, Edwin

Rooms, Liesbeth

Van der Aa, Nathalie

Vandeweyer, Geert

Abstract: 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. Autism Res 2012, 5: 277281. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc

Institutional Repository Universiteit Antwerpen

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

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

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Institutional Repository Universiteit Antwerpen