Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.
Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A may play an important role in the etiology of neurological diseases and psychiatric disorders, besides various types of epilepsy. Here we describe a 3-year-old boy with autistic features, language delay, microcephaly and no history of seizures. Array-CGH analysis revealed an interstitial deletion of ~291.9kB at band 2q24.3 disrupting the entire SCN2A gene and part of SCN3A. We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.
U.O. e Cattedra di Neuropsichiatria Infantile, Istituto G. Gaslini, Genova, Italy.
Maria Elena
ME
Celle
Cristina
C
Cuoco
Simona
S
Porta
Giorgio
G
Gimelli
Elisa
E
Tassano
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001321:Autistic Disorder / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D057895:Haploinsufficiency; D006801:Humans; D007805:Language Development Disorders / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D062552:NAV1.3 Voltage-Gated Sodium Channel / Q000235:genetics*; D011596:Psychomotor Disorders / Q000175:diagnosis* / Q000235:genetics; D012640:Seizures / Q000175:diagnosis / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics*
D062551:NAV1.2 Voltage-Gated Sodium Channel; D062552:NAV1.3 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human; C424715:SCN3A protein, human; D015222:Sodium Channels
Array-CGH; Autistic features; Comparative-Genomic-Hybridization; EEG; Electroencephalography; Interstitial 2q24.3 deletion; Microcephaly; SCN1A; SCN2A; SCN2A and SCN3A genes; SCN3A; sodium channel, voltage-gated, type I, alpha subunit; sodium channel, voltage-gated, type II, alpha subunit; sodium channel, voltage-gated, type III, alpha subunit