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A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
MedLine Citation:
PMID:  20337824     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
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.
Authors:
E I Minder; X Schneider-Yin; R Mamet; L Horev; S Neuenschwander; A Baumer; F Austerlitz; H Puy; N Schoenfeld
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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    
Affiliation:
Zentrallabor, Stadtspital Triemli, Zürich, Switzerland. elisabeth.minder@triemli.stzh.ch
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