CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues

American Journal of Medical Genetics. Part a
Minjie LuoLaura K Conlin

Abstract

Autism spectrum disorder (ASD) is a genetically heterogeneous group of disorders characterized by impairments in social communication and restricted interests. Though some patients with ASD have an identifiable genetic cause, the cause of most ASD remains elusive. Many ASD susceptibility loci have been identified through clinical studies. We report two patients with syndromic ASD and persistent gastrointestinal issues who carry de novo deletions involving the CMIP gene detected by genome-wide SNP microarray and fluorescence in situ hybridization (FISH) analysis. Patient 1 has a 517 kb deletion within 16q23.2q23.3 including the entire CMIP gene. Patient 2 has a 1.59 Mb deletion within 16q23.2q23.3 that includes partial deletion of CMIP in addition to 12 other genes, none of which have a known connection to ASD or other clinical phenotypes. The deletion of CMIP is rare in general population and was not found among a reference cohort of approximately 12,000 patients studied in our laboratory who underwent SNP array analysis for various indications. A 280 kb de novo deletion containing the first 3 exons of CMIP was reported in one patient who also demonstrated ASD and developmental delay. CMIP has previously been identified as a su...Continue Reading

References

Jan 16, 2002·American Journal of Human Genetics·UNKNOWN SLI Consortium
May 17, 2006·Language and Cognitive Processes·Margaret M Kjelgaard, Helen Tager-Flusberg
May 23, 2006·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Gina Conti-RamsdenNicola Botting
Jun 13, 2006·Research in Developmental Disabilities·Johnny L Matson, Marie S Nebel-Schwalm
Mar 17, 2007·Science·Jonathan SebatMichael Wigler
Apr 10, 2009·Autism Research : Official Journal of the International Society for Autism Research·Kristen A LindgrenHelen Tager-Flusberg
Aug 4, 2009·American Journal of Human Genetics·Dianne F NewburyAnthony P Monaco
Mar 3, 2010·Genome Medicine·Dianne F NewburyAnthony P Monaco
Jan 13, 2012·The New England Journal of Medicine·Michael J OmbrelloJoshua D Milner
Jun 13, 2012·Autism Research : Official Journal of the International Society for Autism Research·Nathalie Van der AaR Frank Kooy
Mar 23, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·G Bradley SchaeferUNKNOWN Professional Practice and Guidelines Committee
Aug 27, 2013·Research in Developmental Disabilities·Linda SprengerChristian Bachmann
Mar 13, 2014·Archives of Sexual Behavior·John F StrangGregory L Wallace
Sep 27, 2014·Nature Genetics·Arthur L Beaudet
Dec 3, 2014·Autism Research : Official Journal of the International Society for Autism Research·John D Eicher, Jeffrey R Gruen
Jul 2, 2016·CNS Spectrums·Ellen Doernberg, Eric Hollander

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Feb 14, 2019·Bioinformatics·Utku Norman, A Ercument Cicek
Jan 19, 2020·Current Psychiatry Reports·Tanner Koomar, Jacob J Michaelson
May 1, 2021·Diagnostics·Mario Ollero, Dil Sahali

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