Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria |
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Authors: | Meysam Moghbeli Mahmood Maleknejad Azadeh Arabi Mohammad Reza Abbaszadegan |
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Institution: | (1) Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences (MUMS), Bu-Ali Square, 9196773117 Mashhad, Iran;(2) Department of Pediatric, Musabne Jafar Hospital, Mashhad University of Medical Sciences, Ghuchan, Iran; |
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Abstract: | Porphyrias are rare metabolic hereditary diseases originating from defects in specific enzymes involved in the heme biosynthesis
pathway. Congenital erythropoietic porphyria (CEP) is the rarest autosomal recessive porphyria resulting from a deficiency
of uroporphyrinogen III cosynthase (UROS), the fourth enzyme in heme biosynthesis. CEP leads to an excessive production and
accumulation of type Ι porphyrins in bone marrow, skin and several other tissues. Clinical manifestations are presented in
childhood with severe cutaneous photosensitivity, blistering, scarring and deformation of the hands and the loss of eyebrows
and eyelashes. Less than 200 cases of CEP have been reported to date. Four CEP patients and their family members were studied
for the first time in Iran. A missense mutation in the UROS gene was identified in this family. A, T to C change at nucleotide
34313, leading to a substitution of Leucine by Proline at codon 237, was observed in the homozygous state in these 4 patients
and heterozygous state in their parents. Our data from the Iranian population emphasizes the importance of codon 237 alone,
given the rarity of this disease. This fact can be taken into consideration in the mutational analysis of UROS. This work
emphasizes the advantages of molecular genetic techniques as diagnostic tools for the detection of clinically asymptomatic
heterozygous mutation carriers as well as CEP within families. |
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