Assuntos
Lipoma/genética , Anormalidades Musculoesqueléticas/genética , Mutação de Sentido Incorreto/genética , Nevo/genética , Fosfatidilinositol 3-Quinases/genética , Malformações Vasculares/genética , Classe I de Fosfatidilinositol 3-Quinases , Extremidades , Heterozigoto , Humanos , Lipoma/congênito , Mosaicismo , Nevo/congênito , Dermatopatias Vasculares/congênito , Dermatopatias Vasculares/genéticaRESUMO
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.
Assuntos
Predisposição Genética para Doença , Síndrome da Fibromatose Hialina/genética , Mutação , Receptores de Peptídeos/genética , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: Atopic dermatitis (AD) is a chronic skin disorder of unknown origin that usually manifests for the first time in early infancy. Different types of genetic predisposition and environmental factors seem to be associated with the disease. METHODS: This study was performed to evaluate the frequency of alleles, genotypes, and haplotypes of interleukin (IL) 6 single-nucleotide polymorphisms (SNPs) at positions -174 and nt565 in 89 Iranian children with AD and 139 healthy controls. RESULTS: The G allele was significantly more frequent at position -174 in IL6 in atopic patients than in the healthy controls (P < .001; OR, 2.82). Genotype GG was found at the same position in 71% of the patients; this frequency was significantly higher than the frequency of 30% recorded in the controls (P < .001; OR, 5.60). The GG haplotype of IL6 (-174, nt565) was significantly more frequent in the atopic patients than in the healthy controls (P < .001; OR, 2.99). CONCLUSIONS: A significant increase in the frequency of the G allele and GG genotype at position -174 of IL6 was found in patients with AD, thus suggesting that production of this cytokine is greater in atopic patients.