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Case Reports in GeneticsVolume 2014 2014, Article ID 508231, 5 pages

Case Report

University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA

University of California and Children’s Hospital of San Diego, San Diego, CA 92123, USA

Johns Hopkins University School of Medicine and Howard Hughes Medical Institute, Baltimore, MD 21287, USA

Department of Human Genetics, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA

Received 7 October 2013; Accepted 4 November 2013; Published 3 February 2014

Academic Editors: C.-W. Cheng and A. Sazci

Copyright © 2014 Shaochun Bai et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Mandibuloacral dysplasia MAD is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome HGPS is characterized by the clinical features of accelerated aging in childhood. Both MAD and HGPS can be caused by mutations in the LMNA gene. In this study, we describe a 2-year-old boy with overlapping features of MAD and HGPS. Mutation analysis of the LMNA gene revealed a homozygous missense change, p.M540T, while only the mother carries the mutation. Uniparental disomy UPD analysis for chromosome 1 showed the presence of maternal UPD. Markers in the 1q21.3–q22 region flanking the LMNA locus were isodisomic, while markers in the short arm and distal 1q region were heterodisomic. These results suggest that nondisjunction in maternal meiosis followed by loss of the paternal chromosome 1 during trisomy rescue might result in the UPD1 and homozygosity for the p.M540T mutation observed in this patient.





Autor: Shaochun Bai, Anthony Lozada, Marilyn C. Jones, Harry C. Dietz, Melissa Dempsey, and Soma Das

Fuente: https://www.hindawi.com/



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