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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel mutation in the PORCN gene underlying a case of almost unilateral focal dermal hypoplasia
Archives of Dermatology, Volume 148, No. 1, Year 2012
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Description
Background: Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in any of the cases. Observations: A 17-year-old girl was seen with features of almost unilateral focal dermal hypoplasia. These included left cleft hand, dental dysplasia, left mammary hypoplasia, deviation of the sacral line, raspberrylike papillomas in the perianal region, syndactyly of the second and third digits of the left foot, and linear streaks of dermal hypoplasia and pigmented lesions on her left hemibody. Conclusions: Mutation analysis of PORCN revealed a novel heterozygous mutation in exon 10, c.854-855insACCTGAC; [p.T285fsX316], resulting in a premature stop signal. Analysis of the X-chromosome inactivation status was performed on blood and skin DNA samples, showing random inactivation in blood and unaffected skin and skewed inactivation in affected skin, highlighting the role of X-chromosome inactivation in X-linked disease expression. ©2012 American Medical Association. All rights reserved.
Authors & Co-Authors
Maalouf, Diane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Meǵarbané, Hala
Lebanon, Beirut
Saint George Hospital University Medical Center
Chouery, Éliane
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Nasr, Joanna
Lebanon, Beirut
Saint George Hospital University Medical Center
Badens, Catherine
France, Marseille
Hopital la Timone
Lacoste, Caroline
France, Marseille
Hopital la Timone
Grzeschik, Karl Heinz
Germany, Marburg
Philipps-universität Marburg
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
France, Paris
Institut Jérôme Lejeune
Statistics
Citations: 13
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1001/archdermatol.2011.343
ISSN:
0003987X
e-ISSN:
15383652
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Participants Gender
Female