Document Detail

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
MedLine Citation:
PMID:  20337824     Owner:  NLM     Status:  In-Process    
BACKGROUND: Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by the deficiency of ferrochelatase (FECH) in the haem biosynthetic pathway. In the majority of families, EPP is transmitted as a pseudodominant trait. Autosomal recessive form of EPP is found in only about 3% of the families.
OBJECTIVES: In this study, we describe a 6-year-old boy who suffered from both EPP and palmar keratoderma.
METHODS AND RESULTS: A novel homoallelic missense mutation (p.Ser318Tyr) was identified in the FECH gene. In addition, a region of homozygosity of approximately 6.8 Mb was observed in chromosome 18 of the patient by both microsatellite and SNP array. The parents of the patient, both of Palestinian (Jordanian) origin, were heterozygous for the S318Y mutation, although no history of consanguinity was known. Microsatellite genotyping identified a partial haplotype from each parent that corresponds to the region of homozygosity in the patient. Assuming S318Y is a founder mutation, the number of generations separating the two parents from their common ancestor from whom they inherited S318Y was estimated as 21.7 (95% CI 3.42–69.7).
CONCLUSION: EPP was therefore inherited as an autosomal recessive trait in the family. This study confirms the association between palmar keratoderma and autosomal recessive EPP.
E I Minder; X Schneider-Yin; R Mamet; L Horev; S Neuenschwander; A Baumer; F Austerlitz; H Puy; N Schoenfeld
Related Documents :
19519794 - Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36:...
20199544 - Identification of a primarily neurological phenotypic expression of xeroderma pigmentos...
19512924 - Pathophysiology of dystonia.
17981784 - Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans.
20194164 - Multilocus genotypes from charles darwin's finches: biodiversity lost since the voyage ...
19719404 - Genetic diversity of the mhc class-ii dqa gene in brown bears (ursus arctos) on hokkaid...
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of the European Academy of Dermatology and Venereology : JEADV     Volume:  24     ISSN:  1468-3083     ISO Abbreviation:  J Eur Acad Dermatol Venereol     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-11-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9216037     Medline TA:  J Eur Acad Dermatol Venereol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1349-53     Citation Subset:  IM    
Zentrallabor, Stadtspital Triemli, Zürich, Switzerland.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Nestin expression in stromal cells of trichoblastoma and basal cell carcinoma.
Next Document:  Correlation between the dermatoscopic and histopathological features of pigmented basal cell carcino...