Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik 04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine |
UniBE Contributor: |
Courage, Carolina, Gallati, Sabina, Rieubland, Claudine |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1878-0849 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Anette van Dorland |
Date Deposited: |
19 Mar 2015 12:21 |
Last Modified: |
05 Dec 2022 14:44 |
Publisher DOI: |
10.1016/j.ejmg.2014.06.003 |
PubMed ID: |
24932903 |
Uncontrolled Keywords: |
Array-CGH, CHD2, Epilepsy, Intellectual disability, Microdeletion 15q26.1, RGMA |
BORIS DOI: |
10.7892/boris.65363 |
URI: |
https://boris.unibe.ch/id/eprint/65363 |
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