Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George H. and Badminton, Michael Norman 2010. Molecular epidemiology of erythropoietic protoporphyria in the U.K. British Journal of Dermatology 162 (3) , pp. 642-646. 10.1111/j.1365-2133.2010.09631.x

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Abstract

Background: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene. Predictive genetic counselling requires accurate molecular diagnosis and knowledge of patterns of inheritance. Objectives: To investigate the molecular epidemiology of EPP in the U.K. Methods: DNA samples from 191 unrelated patients resident in the U.K. were analysed for mutations in the FECH and ALAS2 genes and for the FECH IVS3-48 dimorphism. Results: Mutations were identified in 179 (94%) patients. Most (169; 94%) had a FECH mutation on one allele and were classified as having pseudodominant EPP (psdEPP); seven (4%) patients had FECH mutations on both alleles (autosomal recessive EPP) and three (2%) patients had ALAS2 mutations (X-linked dominant protoporphyria). The FECH IVS3-48C allele was strongly associated with psdEPP and with the absence of mutations at the FECH or ALAS2 loci. Fifty-six FECH mutations were identified, 19 being previously unreported. Missense mutations were predominant in autosomal recessive EPP (82%) but not in psdEPP (32%). One mutation (c.314 + 2T>G) was present in 41 (24%) of EPP families, most of whom appeared to be descended from a common ancestor resident in the north of England. Conclusions: These data define the prevalence and molecular epidemiology of each type of EPP in the U.K.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RL Dermatology
Uncontrolled Keywords:	ALAS2, erythropoietic protoporphyria, ferrochelatase, mutations
Publisher:	Wiley-Blackwell
ISSN:	0007-0963
Last Modified:	06 May 2023 02:07
URI:	https://orca.cardiff.ac.uk/id/eprint/26143

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