title: Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.
abstract: 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 CMG2 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 CMG2, 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.
authors.affiliation: Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.|Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.|Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: H
authors.initials: H
authors.lastname: Vahidnezhad
authors.affiliation: Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.|Department of Pediatrics, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: V
authors.initials: V
authors.lastname: Ziaee
authors.affiliation: Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.|Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: L
authors.initials: L
authors.lastname: Youssefian
authors.affiliation: Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: Q
authors.initials: Q
authors.lastname: Li
authors.affiliation: Department of Dermatology, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Sotoudeh
authors.affiliation: Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: J
authors.initials: J
authors.lastname: Uitto
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D057770:Hyaline Fibromatosis Syndrome / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D018000:Receptors, Peptide / Q000235:genetics*
chemical_list: C447150:ANTXR2 protein, human; D018000:Receptors, Peptide