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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
An inherited LMNA gene mutation in atypical Progeria syndrome
American Journal of Medical Genetics, Part A, Volume 158 A, No. 11, Year 2012
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Description
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.
Authors & Co-Authors
Doubaj, Yassamine
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Institut National D'hygiène
de Sandre-Giovannoli, Annachiara
France, Marseille
Hopital la Timone
Vera, Esteves Vieira
France, Marseille
Hopital la Timone
Navarro, Claire Laure
France, Marseille
Hopital la Timone
Chafai El Alaoui, Siham Chafai
Morocco, Agdal Rabat
Institut National D'hygiène
Tajir, Mariam
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Institut National D'hygiène
Lévy, Nicolas
France, Marseille
Hopital la Timone
Sefiani, Abdelaziz
Morocco, Rabat
Faculté de Médecine et de Pharmacie de Rabat
Morocco, Agdal Rabat
Institut National D'hygiène
Statistics
Citations: 41
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1002/ajmg.a.35557
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Noncommunicable Diseases