title: Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.
abstract: Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 Mb at 1q43-q44. We report on a 3 ½ year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings. Array comparative genomic hybridization (aCGH) showed an interstitial deletion of 473 kb at 1q43 region (239,412,391-239,885,394; NCBI build37/hg19) harboring only CHRM3 (Acetylcholine Receptor, Muscarinic, 3; OMIM: 118494). Recently, another case with a de novo interstitial deletion of 911 kb at 1q43 encompassing three genes including CHRM3 was reported. The M3 muscarinic receptor influences a multitude of central and peripheral nervous system processes via its interaction with acetylcholine and may be an important modulator of behavior, learning and memory. We propose CHRM3 as a candidate gene responsible for our patient's specific phenotype as well as the overlapping phenotypic features of other patients with 1q43 or 1q43-q44 deletions.
authors.affiliation: Department of Pediatrics, 601 Elmwood Ave., University of Rochester Medical Centre, Rochester, NY 14642, USA.
authors.forename: Andrea Klunder
authors.initials: AK
authors.lastname: Petersen
authors.forename: Ausaf
authors.initials: A
authors.lastname: Ahmad
authors.forename: Mustafa
authors.initials: M
authors.lastname: Shafiq
authors.forename: Brigette
authors.initials: B
authors.lastname: Brown-Kipphut
authors.forename: Chin-To
authors.initials: CT
authors.lastname: Fong
authors.forename: M
authors.initials: M
authors.lastname: Anwar Iqbal
mesh_terms: D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D043587:Receptor, Muscarinic M3 / Q000235:genetics*
chemical_list: D043587:Receptor, Muscarinic M3