Rare copy number variations involving locus 14q23.3 have been described in patients with autism and other neurodevelopmental disorders. Our 17-year-old male patient presented with hypotonia and early psychomotor and language delay. At 3 years epileptic seizures occurred. The phenotype was characterized by plagiocephaly, dysmorphic signs, macroglossia, obesity. Behavioral pattern was characterized by self-aggressiveness, impulsiveness and compulsive eating. Extensive metabolic genetic investigations, coagulation and autoimmune panels and screening for thyroid function were normal. Karyotype, test for fragile-X and Prader-Willi syndromes were negative. Array-based comparative genomic hybridization analysis yielded a deletion mapping to 14q23.3 band. As it was not detected in either parents we hypothesized a de novo origin of the deletion. The pleckstrin (PLEKHG3) gene was apparently encompassed within the deleted region in our case. It encodes a guanine nucleotide exchange factor important for Rho-dependent signal trasduction mostly enriched in the brain and involved in intracellular signaling.

Autism features and microdeletion on chromosome 14q23.3 involving PLEKHG3 gene

DI ROSA, GABRIELLA;BRIUGLIA, Silvana;SALPIETRO DAMIANO, Carmelo;
2014

Abstract

Rare copy number variations involving locus 14q23.3 have been described in patients with autism and other neurodevelopmental disorders. Our 17-year-old male patient presented with hypotonia and early psychomotor and language delay. At 3 years epileptic seizures occurred. The phenotype was characterized by plagiocephaly, dysmorphic signs, macroglossia, obesity. Behavioral pattern was characterized by self-aggressiveness, impulsiveness and compulsive eating. Extensive metabolic genetic investigations, coagulation and autoimmune panels and screening for thyroid function were normal. Karyotype, test for fragile-X and Prader-Willi syndromes were negative. Array-based comparative genomic hybridization analysis yielded a deletion mapping to 14q23.3 band. As it was not detected in either parents we hypothesized a de novo origin of the deletion. The pleckstrin (PLEKHG3) gene was apparently encompassed within the deleted region in our case. It encodes a guanine nucleotide exchange factor important for Rho-dependent signal trasduction mostly enriched in the brain and involved in intracellular signaling.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/2694169
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