New mutation identified in two sisters with adult-onset erythropoietic protoporphyria.

[erythropoietic protoporphyria]

Erythropoietic protoporphyria (EPP ; OMIM #177000 ) is a rare disease that usually presents in infancy or early childhood . The uncommon adult-onset EPP is often associated with acquired somatic mutations of the FECH gene , secondary to blood dyscracias .We investigated two sisters with adult-onset EPP .We found a novel germline mutation in the FECH gene , in trans with the common hypomorphic IVS 3 -48 C allele .T he adult presentation and identical genotypes of the two sisters suggests that the late development of the condition is to an extent a function of the mutation . The exact mechanism for this delayed penetrance is not clear , although these atypical cases raise the possibility of other genetic or nongenetic disease-modifying factors .

Diseases
Validation

Diseases presenting "early childhood" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cystinuria

erythropoietic protoporphyria

fabry disease

gm1 gangliosidosis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

papillon-lefèvre syndrome

proteus syndrome

pyruvate dehydrogenase deficiency

triple a syndrome

werner syndrome

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