Title

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes.

Document Type

Article

Publication Date

5-2010

Identifier

DOI: 10.1002/ajmg.a.33374

Abstract

We identified a novel homozygous 15q13.3 microdeletion in a young boy with a complex neurodevelopmental disorder characterized by severe visual impairment, hypotonia, profound intellectual disability, and refractory epilepsy. The homozygous deletion of the genes within this deleted region provides a useful insight into the pathogenesis of the observed clinical phenotype. Absence of the Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) gene product is proposed as a possible mechanism for the severe visual impairment; absence of CHRNA7 (alpha7-nicotinic receptor subunit) as a cause of the refractory seizures and severe cognitive impairment; and deletion of MTMR10 and/or MTMR15 (encoding myotubularin related proteins) alone or combined with other homozygously deleted genes as a cause for the congenital hypotonia with areflexia. The distinctive clinical findings in this patient reveal potential functions of the genes within the deleted region.

Journal Title

American journal of medical genetics. Part A

Volume

152A

Issue

5

First Page

1300

Last Page

1304

MeSH Keywords

Child; Chromosome Deletion; Chromosomes, Human, Pair 15; Comparative Genomic Hybridization; Developmental Disabilities; Homozygote; Humans; Infant; Male; Receptors, Nicotinic; TRPM Cation Channels; alpha7 Nicotinic Acetylcholine Receptor

Keywords

Chromosome Deletion; Chromosomes, Pair 15; Comparative Genomic Hybridization; Developmental Disabilities; Homozygote; Receptors, Nicotinic; TRPM Cation Channels; alpha7 Nicotinic Acetylcholine Receptor

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