title: Deletion of 16q24.1 supports a role for the ATP2C2 gene in specific language impairment.
abstract: A 10-year-old boy presented with a history of significant delay in language acquisition as well as receptive and expressive language impairment that persisted into elementary school. In school, he exhibited difficulty with reading comprehension, telling and understanding narratives, and making inferences. Other aspects of his neurodevelopment were normal, with no history of significant medical concerns. He did not have hearing impairment, oromotor dysfunction, or specific neurologic abnormalities. He did not meet testing criteria for autism. Chromosomal microarray analysis and quantitative polymerase chain reaction determined that he had a de novo 159-kilobase deletion of chromosome 16q24.1 that included the ATP2C2 gene. ATP2C2 is a known candidate gene for specific language impairment and is postulated to have neurobiological significance in memory-related circuits. Our patient's language deficits were consistent with a global type of specific language impairment impacting language comprehension, formulation, semantics, syntax, and phonology attributed to his de novo chromosome deletion.
authors.affiliation: Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA.
authors.forename: Amena W
authors.initials: AW
authors.lastname: Smith
authors.affiliation: Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA Greenwood Genetic Center, Greenwood, SC, USA.
authors.forename: Kenton R
authors.initials: KR
authors.lastname: Holden
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA.
authors.forename: Alka
authors.initials: A
authors.lastname: Dwivedi
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA.
authors.forename: Barbara R
authors.initials: BR
authors.lastname: Dupont
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA mlyons@ggc.org.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Lyons
mesh_terms: D000252:Calcium-Transporting ATPases / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002885:Chromosomes, Human, Pair 16; D006801:Humans; D007806:Language Disorders / Q000235:genetics*; D007807:Language Tests; D008297:Male; D046228:Microarray Analysis
chemical_list: C452183:ATP2C2 protein, human; D000252:Calcium-Transporting ATPases
keywords: ATP2C2; deletion; language delay; specific language impairment