Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder

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• 作者：Andrea Klunder Petersen^a ; Ausaf Ahmad^b ; Mustafa Shafiq^b ; Brigette Brown-Kipphut^b ; Chin-To Fong^a ; M. Anwar Iqbal^b ; ^{Anwar_Iqbal@urmc.rochester.edu}
• 关键词：1q43 deletion ; Acetylcholine receptor muscarinic 3 ; CHRM3 ; Autistic disorder ; M3-muscarinic receptor ; Microarray CGH
• 刊名：European Journal of Medical Genetics
• 出版年：2013
• 出版时间：February, 2013
• 年：2013
• 卷：56
• 期：2
• 页码：118-122
• 全文大小：482 K

文摘

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 ? 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.