TY - JOUR
T1 - A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria
AU - Li, Chumei
AU - Di Pierro, Elena
AU - Brancaleoni, Valentina
AU - Cappellini, Maria Domenica
AU - Steensma, David P.
PY - 2009/1/1
Y1 - 2009/1/1
N2 - Background: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type. Methods: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and c.315-48T>C] in trans to the deletion in his ferrochelatase (FECH) gene. Results: The combination of the deletion and the polymorphisms reduced his FECH activity level to 20% of control. Conclusions: It is conceivable that a homozygous state for this polymorphic haplotype might be sufficient to produce clinical phenotype of EPP. The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct.
AB - Background: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type. Methods: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and c.315-48T>C] in trans to the deletion in his ferrochelatase (FECH) gene. Results: The combination of the deletion and the polymorphisms reduced his FECH activity level to 20% of control. Conclusions: It is conceivable that a homozygous state for this polymorphic haplotype might be sufficient to produce clinical phenotype of EPP. The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct.
KW - Deletion
KW - Erythropoietic protoporphyria
KW - FECH gene
KW - Polymorphisms
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U2 - 10.1515/CCLM.2009.010
DO - 10.1515/CCLM.2009.010
M3 - Article
C2 - 19055472
AN - SCOPUS:58149263117
VL - 47
SP - 44
EP - 46
JO - Clinical Chemistry and Laboratory Medicine
JF - Clinical Chemistry and Laboratory Medicine
SN - 1434-6621
IS - 1
ER -