European Journal of Medical Genetics 57 (2014) 520e523
Contents lists available at ScienceDirect
European Journal of Medical Genetics journal homepage: http://www.elsevier.com/locate/ejmg
Clinical report
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity Carolina Courage a, *, Gunnar Houge b, Sabina Gallati a, Jack Schjelderup c, Claudine Rieubland a a b c
Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway Habilitation Service for Adults, Haukeland University Hospital, Bergen, Norway
a r t i c l e i n f o
a b s t r a c t
Article history: Received 27 January 2014 Accepted 2 June 2014 Available online 13 June 2014
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. Ó 2014 Elsevier Masson SAS. All rights reserved.
Keywords: Microdeletion 15q26.1 Epilepsy Intellectual disability Array-CGH CHD2 RGMA
1. Introduction
2. Patient data
Deletions of chromosome band 15q26 have been associated with intellectual disability, short stature, epilepsy, diaphragmatic hernia, heart and renal malformations [Klaassens et al., 2007; Tönnies et al., 2001]. Microdeletions in subdomain 15q26.1 have rarely been reported in patients with epilepsy and intellectual disability [Dhamija et al., 2011; Veredice et al., 2009]. Recently Capelli at al. [2012] reported a 15q26.1 deletion encompassing only two genes, CHD2 and RGMA [Capelli et al., 2012]. This deletion was de novo in a six year old girl with global developmental delay, epilepsy, autistic behavior and facial dysmorphism. We report two further patients with similar phenotypes and almost identical deletions.
The families of both patients referred below have received genetic counseling, and permissions to publish case information and show facial photographs have been obtained.
* Corresponding author. Division of Human Genetics, Department of Pediatrics , Inselspital, University of Bern, 3010 Bern, Switzerland. Tel.: þ41 31 632 07 24; fax: þ41 31 632 94 84. E-mail address: [email protected] (C. Courage). http://dx.doi.org/10.1016/j.ejmg.2014.06.003 1769-7212/Ó 2014 Elsevier Masson SAS. All rights reserved.
2.1. Patient 1 The patient was the first child of non-consanguineous Swiss parents. He was born at term after an uneventful pregnancy, birth weight of 2440 g (
Contents lists available at ScienceDirect
European Journal of Medical Genetics journal homepage: http://www.elsevier.com/locate/ejmg
Clinical report
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity Carolina Courage a, *, Gunnar Houge b, Sabina Gallati a, Jack Schjelderup c, Claudine Rieubland a a b c
Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway Habilitation Service for Adults, Haukeland University Hospital, Bergen, Norway
a r t i c l e i n f o
a b s t r a c t
Article history: Received 27 January 2014 Accepted 2 June 2014 Available online 13 June 2014
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. Ó 2014 Elsevier Masson SAS. All rights reserved.
Keywords: Microdeletion 15q26.1 Epilepsy Intellectual disability Array-CGH CHD2 RGMA
1. Introduction
2. Patient data
Deletions of chromosome band 15q26 have been associated with intellectual disability, short stature, epilepsy, diaphragmatic hernia, heart and renal malformations [Klaassens et al., 2007; Tönnies et al., 2001]. Microdeletions in subdomain 15q26.1 have rarely been reported in patients with epilepsy and intellectual disability [Dhamija et al., 2011; Veredice et al., 2009]. Recently Capelli at al. [2012] reported a 15q26.1 deletion encompassing only two genes, CHD2 and RGMA [Capelli et al., 2012]. This deletion was de novo in a six year old girl with global developmental delay, epilepsy, autistic behavior and facial dysmorphism. We report two further patients with similar phenotypes and almost identical deletions.
The families of both patients referred below have received genetic counseling, and permissions to publish case information and show facial photographs have been obtained.
* Corresponding author. Division of Human Genetics, Department of Pediatrics , Inselspital, University of Bern, 3010 Bern, Switzerland. Tel.: þ41 31 632 07 24; fax: þ41 31 632 94 84. E-mail address: [email protected] (C. Courage). http://dx.doi.org/10.1016/j.ejmg.2014.06.003 1769-7212/Ó 2014 Elsevier Masson SAS. All rights reserved.
2.1. Patient 1 The patient was the first child of non-consanguineous Swiss parents. He was born at term after an uneventful pregnancy, birth weight of 2440 g (
