[Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene].

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a hereditary disorder associated with microdeletions of chromosome 22q13 or point mutations in SHANK3, characterized by mental and speech delays, intellectual disability, epilepsy and autism spectrum disorder. We describe a case PMS associated with a heterozygous mutation c.2486delC (p.Pro829fs) in SHANK3. The diagnostic pathway of a female patient with PMS took more than 7...

Topics

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• Autism Spectrum Disorder
• Chromosome Deletion
• Chromosome Disorders
• Chromosomes, Human, Pair 22
• Heterozygote