Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44

Cytogenetic and Genome Research
C OrellanaF Martínez

Abstract

Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.

Citations

Sep 22, 2011·European Journal of Human Genetics : EJHG·Sandesh C Sreenath NagamaniSau Wai Cheung
Nov 7, 2013·European Journal of Human Genetics : EJHG·Sonja A de MunnikHan G Brunner
Apr 23, 2015·American Journal of Medical Genetics. Part a·Ignacio Arroyo-CarreraMaría Luisa Martínez-Frías
Sep 15, 2012·European Journal of Medical Genetics·Kaja K SelmerMadeleine Fannemel
Mar 16, 2013·American Journal of Medical Genetics. Part a·Seth J PerlmanMarwan Shinawi
Nov 27, 2014·American Journal of Medical Genetics. Part a·Dayu GaiSui Yu
Oct 22, 2014·PloS One·Victoria Q TaoBrian H Y Chung
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Jun 22, 2012·Journal of Human Genetics·Keiko ShimojimaToshiyuki Yamamoto
Dec 13, 2019·Cytogenetic and Genome Research·Elisabet LloverasCristina Perez

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