First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

Soheilipour, Fahimeh; Fazilaty, Hassan; Jamshidi, Fatemeh; Gahl, William A.; Behnam, Babak

doi:10.1016/j.ymgmr.2016.06.001

Cited by 7 publications

(6 citation statements)

References 39 publications

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“…Additionally, 19 TBG gene mutations result in TBG-PD; all of them are single nucleotide substitutions, with 17 in exon regions, 1 in an intron, and 1 in the downstream enhancer region of the TBG gene. Furthermore, 3 single nucleotide substitutions in TBG have been identified as gene polymorphisms that do not cause changes in TBG levels[9-14]. As yet, no large insertional mutations that associate with TBG-CD have been reported in TBG .…”

Section: Introductionmentioning

confidence: 99%

Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report

Dang

Xiao

Shan

et al. 2019

WJCC

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BACKGROUNDThyroxine-binding globulin (TBG; the gene product of SERPINA7) is the main transporter of thyroid hormones in humans. Mutations in the TBG gene may lead to inherited TBG deficiency. There have been 28 reported mutations that associate with complete TBG deficiency (TBG-CD). Here we identified a novel frameshift mutation causing early termination of the TBG protein and TBG-CD in a Chinese family.CASE SUMMARYA 46-year-old Chinese man was referred to our hospital with normal free thyroxine, free triiodothyronine, thyrotropin, but lower total thyroxine and total triiodothyronine, and undetectable serum TBG, indicative of TBG-CD. Blood samples were obtained from the patient’s family members and thyroid function and serum TBG were evaluated. Genomic DNA from peripheral blood was sequenced to detect possible TBG mutation(s). Quantitative PCR high-resolution melting curve analysis was used to screen TBG-Poly (L283F) among 117 Chinese men. A novel mutation of TBG (p.Phe135Alafs*21), a 19-nucleotide insertion in exon 1, was identified, which resulted in a truncated TBG protein product and caused TBG-CD. The other mutation, identified in the proband’s father, is a known polymorphism, TBG-Poly (L283F). The frequency of the TBG-Poly allele among 117 unrelated Han Chinese men from northeast China was 21.37%.CONCLUSIONA novel mutation in the TBG gene associated with the TBG-CD phenotype was identified in a Chinese family. Additionally, it was found that 21.37% of Chinese males had TBG-Poly (L283F).

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Section: Introductionmentioning

confidence: 99%

Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report

Dang

Xiao

Shan

et al. 2019

WJCC

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“…TBG deficiency exhibits clinically euthyroid status and does not require treatment. However, physicians unaware of this condition misdiagnose TBG deficiency as hypothyroidism [12,34,35], despite this rarely occurs in endocrinologist's practice. Recognizing TBG deficiency is important because misdiagnosis for hypothyroidism might lead to iatrogenic When only total thyroid hormones level is low while TSH and free T4 are normal, history taking, checking symptoms of hypothyroidism, physical examination, and most importantly testing serum TBG level, along with thyroid autoantibodies or ultrasonography if necessary would help to avoid misdiagnosis.…”

Section: Article In Pressmentioning

confidence: 99%

“…To date, 49 mutations in the SERPINA7 gene have been reported to cause TBG deficiency [10][11][12][13][14]. In Korea, reports of TBG deficiency mainly discuss neonates and pediatric patients, and only a few mutation analyses of the SERPINA7 gene have been conducted.…”

Section: Introductionmentioning

confidence: 99%

Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea

et al. 2022

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Background: Thyroxine-binding globulin (TBG) is a major transporter protein for thyroid hormones. The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Although more than 40 mutations have been reported in several countries, only a few studies of TBG deficiency and SERPINA7 gene mutation have been performed in Korea. The aim of this study is to review the clinical presentations and laboratory findings of patients with TBG deficiency and to investigate the types of SERPINA7 gene mutation. Methods: Five unrelated Korean adults with TBG deficiency attending endocrinology clinic underwent SERPINA7 gene sequencing. Four patients harbored a SERPINA7 gene mutation. Serum thyroid hormones, anti-microsomal antibodies, and TBG were measured. Genomic DNA was extracted from whole blood. All exons and intron-exon boundaries of the TBG gene were amplified and sequencing was performed. Results: Two patients were heterozygous females, and the other two were hemizygous males. One heterozygous female had coexisting hypothyroidism. The other heterozygous female was erroneously prescribed levothyroxine at a local clinic. One hemizygous male harbored a novel mutation, p.Phe269Cysfs*18, which caused TBG partial deficiency. Three patients had the p.Leu372Phefs*23 mutation, which is known as TBG-complete deficiency Japan (TBG-CDJ) and was also presented in previous mutation analyses in Korea. Conclusion:This study presents four patients diagnosed with TBG deficiency and provides the results of SERPINA7 gene sequencing. One novel mutation, p.Phe269Cysfs*18, causing TBD-partial deficiency and three cases of TBG-CDJ were demonstrated. It is necessary to identify TBG deficiency to prevent improper treatment. Also, sequencing of the SERPINA7 gene would provide valuable information about the TBG variants in Korea.

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“…Sabe-se, hoje em dia, que o gene TBG está localizado no braço longo do cromossomo X. Ademais, mutações que envolvem a perda da função da SERPINA7 provocam anormalidades hereditárias da TBG sérica, as quais podem se apresentar de forma completa, parcial ou , uexcessivas, uma vez que SERPINA7 reside no cromossomo X, mulheres com mutações homozigotas inativas e homens hemizigotos para uma mutação deletéria, geralmente, se manifestam de forma completa para a mutação. Já mulheres heterozigotas podem ser apenas parciais (REFETOFF et al, 1996;SOHEILIPOUR et al, 2016).…”

Section: Globulina De Ligação a Tiroxina -Tbgunclassified

“…Estima-se que a frequência de TBG (proteína transportadora dos hormônios tireoidianos) seja de 1 em 1200 a 15.000 recém-nascidos. Além disso, discute-se que esses valores não sejam exatos, haja vista as dificuldades em detectar mulheres heterozigóticas e homens com TBG (SOHEILIPOUR et al, 2016). Em contrapartida, outros estudos têm reportado que o hipotireoidismo congênito tem afetado 1 em 2000 a 4000 recém-nascidos no mundo (DELADOËY et al, 2011;HARRIS;PASS, 2007).…”

Section: Introductionunclassified

Deficiência na Globulina de Ligação de Tiroxina: uma Revisão de Literatura

Barbosa

Araújo

2019

Ens Cien C Biol Agra Saúde

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O hipotireoidismo congênito é classificado como a falta de hormônios tireoidianos após o nascimento, e que quando não tratado inicialmente,contribui para o atraso acentuado do desenvolvimento e retardo mental. A ingestão adequada de iodo é necessária para a produção de hormônios tireoidianos. Visto que sua deficiência pode levar ao hipotireoidismo congênito em neonato, uma condição caracterizada, geralmente, por deficiência intelectual e nanismo, podendo ainda afetar a audição. O presente estudo teve como objetivo realizar uma revisão de literatura acerca da Hipotebegenemia e seus agravos relacionados à saúde. Hipotebegenemia doença genética, ligada ao cromossomo X e que acomete, principalmente, meninos. Ocorre por uma deficiência na proteína transportadora dos hormônios tireodianos - TBG. Para isto, realizaram-se buscas bibliográficas em bases eletrônicas, tais como: Bireme, Lilacs, SciELO, Pubmed e Periódicos Capes. Conclui-se que o hipotireoidismo subclínico na infância parece ser reversível na maioria dos casos. Contudo, os riscos de progressão desta condição não devem ser afastados, uma vez que as manifestações clínicas irão depender de determinadas condições, tal como as formas autoimunes.Palavras chaves: Hipotireoidismo. Tireoglobulina Ligadora. Doença Genética.AbstractCongenital hypothyroidism is classified as the lack of thyroid hormones after birth, and when not treated initially, it contributes to markeddevelopmental delay and mental retardation. The ingestion of iodide it is necessary for the thyroid hormones production. Its deficiency can leadto congenital hypothyroidism in the neonate, a condition usually characterized by intellectual deficiency and dwarfism, and may even affect hearing. The objective of the present study was to carry out a review of the literature on Hypothembemia and its health related diseases. It is a Hipotebegenemia genetic disease, linked to the X chromosome and affects mainly boys. It occurs due to a deficiency in thyroid hormone carrier protein - TBG. For this, bibliographic searches were carried out in electronic databases, such as: Bireme, Lilacs, SciELO, Pubmed and Periodicals CAPES. It is concluded that subclinical hypothyroidism in childhood seems to be reversible in most cases. However, the risks of progress by category are not required, since that the clinical manifestations will depend on conditions, such as autoimmune forms.Keywords: Hypothyroidism. Binding Thyroglobulin. Genetic Disease.

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First report of inherited thyroxine-binding globulin deficiency in Iran caused by a known de novo mutation in SERPINA7

Cited by 7 publications

References 39 publications

Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report

Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report

Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea

Deficiência na Globulina de Ligação de Tiroxina: uma Revisão de Literatura

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