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Infantile systemic hyalinosis in an I ranian family with a mutation in the CMG 2/ ANTXR 2 gene
Author(s) -
Vahidnezhad H.,
Ziaee V.,
Youssefian L.,
Li Q.,
Sotoudeh S.,
Uitto J.
Publication year - 2015
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12616
Subject(s) - genodermatosis , frameshift mutation , mutation , gene , medicine , biology , pathology , genetics
Summary Infantile systemic hyalinosis ( ISH ) is an extremely rare genodermatosis, characterized by thickened skin, joint contractures and subcutaneous nodules. ISH is caused by mutations in the CMG 2 gene, which encodes a protein of unknown function. In this report, we describe a patient with ISH , who was a twin born to a consanguineous Iranian couple, and who demonstrated unusual skin findings in addition to the characteristic features of ISH . Mutation analysis disclosed a homozygous deletion mutation, c.1074delT in CMG 2 , resulting in a frameshift and premature termination codon 50 amino acids downstream of the deletion. This information adds to the recurring nature of this mutation in ISH , with implications for genetic counselling in extended families with a history of this disease.