Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

Background: Interstitial deletions of the long arm of chromosome 6 have been described in several patients with obesity and a Prader-Willi-like phenotype. Haploinsufficiency of the SIM1 gene located at 6q16.3 is suggested as being responsible for the regulation of body weight. Here we report on 2 pa...

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Bibliographic Details
Published in:Molecular syndromology 2010-01, Vol.1 (2), p.75-81
Main Authors: Wentzel, C., Lynch, S.A., Stattin, E.-L., Sharkey, F.H., Annerén, G., Thuresson, A.-C.
Format: Article
Language:English
Subjects:
6q Deletion
Clinical genetics
Dermatologi och venerologi, klinisk genetik, invärtesmedicin
Dermatology and venerology,clinical genetics, internal medicine
Klinisk genetik
Learning disability
MEDICIN
MEDICINE
Mental retardation
Obesity
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Original Article
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Summary:Background: Interstitial deletions of the long arm of chromosome 6 have been described in several patients with obesity and a Prader-Willi-like phenotype. Haploinsufficiency of the SIM1 gene located at 6q16.3 is suggested as being responsible for the regulation of body weight. Here we report on 2 patients with interstitial deletions at 6q14.1–q15 presenting with obesity and symptoms strikingly similar to those reported for deletions involving the SIM1 gene despite not having a deletion of this gene. Methods: Array comparative genomic hybridisation was used to diagnose 2 children with obesity and developmental delay, revealing 2 interstitial deletions at 6q14.1–q15 of 8.73 and 4.50 Mb, respectively, and a region of overlap of 4.2-Mb. Results: The similar phenotype in the 2 patients was most likely due to a 4.2-Mb common microdeletion at 6q14.1–q15. Another patient has previously been described with an overlapping deletion. The 3 patients share several features, such as developmental delay, obesity, hernia, rounded face with full cheeks, epicanthal folds, short palpebral fissures, bulbous nose, large ears, and syndactyly between toes II and III. Conclusions: Together with a previously reported patient, our study suggests that the detected deletions may represent a novel clinically recognisable microdeletion syndrome caused by haploinsufficiency of dosage-sensitive genes in the 6q14.1–q15 region.
ISSN:1661-8769
1661-8777
1661-8777
DOI:10.1159/000314025