How to Cite this Article: Doubaj Y, De Sandre-Giovannoli A, Vera E-V, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. 2012. An inherited LMNA gene mutation in atypical progeria syndrome. Am J Med Genet Part A 158A: 2881–2887.
Article first published online: 18 SEP 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Special Issue: SPECIAL ISSUE: GROWTH CHARTS IN GENETIC SYNDROMES
Volume 158A, Issue 11, pages 2881–2887, November 2012
How to Cite
Doubaj, Y., De Sandre-Giovannoli, A., Vera, E.-V., Navarro, C. L., Elalaoui, S. C., Tajir, M., Lévy, N. and Sefiani, A. (2012), An inherited LMNA gene mutation in atypical Progeria syndrome. Am. J. Med. Genet., 158A: 2881–2887. doi: 10.1002/ajmg.a.35557
Y. Doubaj and A. De Sandre-Giovannoli contributed equally to this work.
- Issue published online: 17 OCT 2012
- Article first published online: 18 SEP 2012
- Manuscript Accepted: 15 JUN 2012
- Manuscript Received: 5 APR 2011
- atypical progeroid syndrome;
- somatic mosaicism;
Hutchinson–Gilford Progeria syndrome (HGPS) is a rare genetic disorder, characterized by several clinical features that begin in early childhood, recalling an accelerated aging process. The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA). Besides “typical HGPS,” several “atypical progeria” syndromes (APS) have been described, in a clinical spectrum ranging from mandibuloacral dysplasia to atypical Werner syndrome. These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy, skeletal anomalies, such as mandibular hypoplasia and acroosteolyses, and in some cases severe atherosclerosis with metabolic complications. APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in Nestor–Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non-consanguineous Moroccan patient presenting with atypical progeria. The molecular studies showed the heterozygous mutation c.412G>A (p.Glu138Lys) of the LMNA gene. This mutation, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism. © 2012 Wiley Periodicals, Inc.