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      Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect Translated title: Mutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto

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          Abstract

          The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release). The coding sequence of TPO, DUOX2, and DUOXA2 genes and 2957 base pairs (bp) of the TPO promoter were sequenced. Molecular analysis of patient's DNA identified the heterozygous duplication GGCC (c.1186_1187insGGCC) in exon 8 of the TPO gene. No additional mutation was detected either in the TPO gene, TPO promoter, DUOX2 or DUOXA2 genes. We have described a patient with a clear TIOD causing severe goitrous CH due to a monoallelic TPO mutation. A plausible explanation for the association between an autosomal recessive disorder with a single TPO-mutated allele is the presence of monoallelic TPO expression.

          Translated abstract

          O objetivo deste estudo foi identificar defeitos genéticos em paciente com hipotireoidismo congênito (HC) por disormonogênese e defeito total de incorporação de iodeto (DIIT). Neonato do sexo masculino com HC diagnosticado pelo rastreamento neonatal. Exames clínicos e radiológicos confirmaram que o paciente apresentava HC severo e permanente com DIIT (teste de perclorato: 99%). A região codificadora dos genes TPO, DUOX2, DUOXA2 e 2957 pares de bases (pb) do promotor de TPO foram sequenciados. No paciente foi identificada a duplicação em heterozigose GGCC no éxon 8 do gene TPO (c.1186_1187insGGCC). Nenhuma outra mutação foi localizada nos genes TPO, incluindo o promotor, DUOX2 ou DUOXA2. Descrevemos paciente com grave defeito de organificação de iodeto, provocando HC severo com bócio, em consequência de uma única mutação monoalélica no gene TPO. A expressão monoalélica no tecido tireoideano explicaria a associação de uma doen­ça autossômica recessiva com uma única mutação monoalélica.

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          Most cited references 20

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          Two compound heterozygous mutations (c.215delA/c.2422T?C and c.387delC/c.1159G?A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect

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            Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter

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              High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                abem
                Arquivos Brasileiros de Endocrinologia & Metabologia
                Arq Bras Endocrinol Metab
                Sociedade Brasileira de Endocrinologia e Metabologia (São Paulo )
                1677-9487
                November 2010
                : 54
                : 8
                : 732-737
                Affiliations
                [1 ] Universidade de São Paulo Brazil
                [2 ] Universidade Federal de Minas Gerais Brazil
                [3 ] Universidad de Buenos Aires Argentina
                [4 ] Universidade Federal de São Paulo Brazil
                Article
                S0004-27302010000800012
                10.1590/S0004-27302010000800012
                Product
                Product Information: website
                Categories
                ENDOCRINOLOGY & METABOLISM

                Endocrinology & Diabetes

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