Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay

Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Yann-Jang Chen; Fuu-Jen Tsai; Pei-Chen Wu; Wayseen Wang

doi:10.1016/j.ejmg.2010.03.006

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay

Eur J Med Genet. 2010 Jul-Aug;53(4):217-20. doi: 10.1016/j.ejmg.2010.03.006. Epub 2010 Mar 24.

Authors

Chih-Ping Chen¹, Shuan-Pei Lin, Schu-Rern Chern, Yann-Jang Chen, Fuu-Jen Tsai, Pei-Chen Wu, Wayseen Wang

Affiliation

¹ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com

PMID: 20346423
DOI: 10.1016/j.ejmg.2010.03.006

Abstract

We report a 3 years and 4 months old girl with autistic features, developmental delay, mental retardation, language impairment and dysmorphic features, carrying a 2.8 Mb de novo deletion of chromosome 2q24.2-->q24.3 detected by array-CGH. This region contains two neuronal voltage-gated sodium channel genes SCN2A and SCN3A.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Autistic Disorder / genetics*
Autistic Disorder / pathology
Child, Preschool
Chromosomes, Human, Pair 2 / genetics*
Comparative Genomic Hybridization*
Developmental Disabilities / genetics*
Developmental Disabilities / pathology
Female
Humans
In Situ Hybridization, Fluorescence
Male
NAV1.2 Voltage-Gated Sodium Channel
NAV1.3 Voltage-Gated Sodium Channel
Nerve Tissue Proteins / genetics*
Oligonucleotide Array Sequence Analysis*
Phenotype
Sequence Deletion / genetics*
Sodium Channels / genetics*

Substances

NAV1.2 Voltage-Gated Sodium Channel
NAV1.3 Voltage-Gated Sodium Channel
Nerve Tissue Proteins
SCN2A protein, human
SCN3A protein, human
Sodium Channels