Literature DB >> 24932903

15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Carolina Courage1, Gunnar Houge2, Sabina Gallati3, Jack Schjelderup4, Claudine Rieubland3.   

Abstract

We report two patients with microdeletions in chromosomal subdomain 15q26.1 encompassing only two genes, CHD2 and RGMA. Both patients present a distinct phenotype with intellectual disability, epilepsy, behavioral issues, truncal obesity, scoliosis and facial dysmorphism. CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.
Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Array-CGH; CHD2; Epilepsy; Intellectual disability; Microdeletion 15q26.1; RGMA

Mesh：

Substances：

Year:  2014        PMID： 24932903     DOI： 10.1016/j.ejmg.2014.06.003

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  7 in total

1.  Human CHD2 is a chromatin assembly ATPase regulated by its chromo- and DNA-binding domains.

Authors:  Jessica C Liu; Catarina G Ferreira; Timur Yusufzai
Journal:  J Biol Chem       Date:  2014-11-10       Impact factor: 5.157

2.  Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.

Authors:  Weixing Feng; Fang Fang; Xiaohui Wang; Chunhong Chen; Junlan Lu; Jie Deng
Journal:  Pediatr Investig       Date:  2022-04-26

3.  Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.

Authors:  Willem Ma Verhoeven; Jos Im Egger; Alida C Knegt; José Zuydam; Tjitske Kleefstra
Journal:  Neuropsychiatr Dis Treat       Date:  2016-05-10       Impact factor: 2.570

4.  15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Authors:  Yahya Benbouchta; Nicole De Leeuw; Saadia Amasdl; Aziza Sbiti; Dominique Smeets; Khalid Sadki; Abdelaziz Sefiani
Journal:  Ital J Pediatr       Date:  2021-09-16       Impact factor: 2.638

5.  Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Authors:  Carla Sustek D'Angelo; Monica Castro Varela; Claudia Irene Emílio de Castro; Paulo Alberto Otto; Ana Beatriz Alvarez Perez; Charles Marques Lourenço; Chong Ae Kim; Debora Romeo Bertola; Fernando Kok; Luis Garcia-Alonso; Celia Priszkulnik Koiffmann
Journal:  Mol Cytogenet       Date:  2018-02-05       Impact factor: 2.009

Review 6.  Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy.

Authors:  Kay-Marie J Lamar; Gemma L Carvill
Journal:  Front Mol Neurosci       Date:  2018-06-15       Impact factor: 5.639

7.  Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.

Authors:  Johan H Thygesen; Kate Wolfe; Andrew McQuillin; Marina Viñas-Jornet; Neus Baena; Nathalie Brison; Greet D'Haenens; Susanna Esteba-Castillo; Elisabeth Gabau; Núria Ribas-Vidal; Anna Ruiz; Joris Vermeesch; Eddy Weyts; Ramon Novell; Griet Van Buggenhout; André Strydom; Nick Bass; Miriam Guitart; Annick Vogels
Journal:  Br J Psychiatry       Date:  2018-05       Impact factor: 9.319
  7 in total

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