A Case Report on Genetic Analysis of Exon2 of Thyroid Transcription Factor 2 Gene in Congenital Hypothyroidism Patient

##plugins.themes.bootstrap3.article.main##

  •   Marjia Khatun

  •   Laila Anjuman Banu

Abstract

A-3-year- old Bangladeshi pediatric patient named Tasin was presented with a diagnosed case of congenital hypothyroidism (CH). This type of hypothyroidism may occur due to the alteration in the nucleotide sequences of the Thyroid transcription factor 2 gene. Few studies are present on the genetic basis of this disease. CH is common in Bangladesh, may be due to geographical variation or other causes. Therefore, this study was conducted to identify whether there was any genetic alteration in the exon2 of Thyroid transcription factor 2 gene.


With due procedure and permission from the guardian of the pediatric patient, socio-demographic data was collected. Isolation of DNA, quantitation and qualitation of DNA was ensured, polymerase chain reaction (PCR) was performed, the amplicons that was obtained from PCR; validated visually by gel electrophoresis methods; cycle sequencing was performed by Sanger sequencing. The chromatogram data that was obtained from Sanger sequencing was analyzed and compared with the National Center for Biotechnology Information database by Basic Local Alignment Search Tool search. Sanger sequencing revealed substitution (c.1051G>T) in the Sequence Tagged Site of the exon2 of Thyroid transcription factor 2 gene and this is new variants and not reported in National Center for Biotechnology Information database.


Keywords: Bangladeshi, Congenital Hypothyroidism, Thyroid transcription factor 2 gene, Substitution

References

Begum, N, Islam, T, Hossain, SR, Bhuyan, GS, Halim, MA, Shahriar, I, Sarker, SK, Haque, S, Konika, TS, Islam, S, Rahat, A, Qadri, SK, Sultana, R, Begum, S, Sultana, S, Saha, N, Hasan, M, Hasanat, MA, Banu, H, Shekhar, HU, Chowdhury, EK, Sajib, AA, Islam, ABM, Qadri, SS, Qadri, F, Akhteruzzaman, S & Mannor, K 2019, ‘Mutation spectrum in TPO gene of Bangladeshi patients with thyroid dyshormonogenesis and analysis of the structural features and functions of TPO protein through in silico approach’, Biomedical Research International, 2019, 1-18,

Naik SM, Ravishankara, S, Appaji, M, Gautom, MK, Devi, NP & Naik, SS, ‘Congenital hypothyroidism: follow up of a case for 13 years,’ Otolaryngology online journal.4,2,2014.

Park, SM & Chatterjee, VKK, 2005, ‘Genetics of congenital hypothyroidism’, Journal of Medical Genetics, 45, 5, 379-389.

Maswiryati, AA & Westra, N2003, “Congenital hypothyroidism: a case report”, Pediatrica Indonesia, 43, 1-2, 2003.

Szinnai, G, ‘Clinical genetics of congenital hypothyroidism’, Pediatric Thyroidology, vol. 26, pp. 60-78, 2014.

Montanelli L & Tonacchera M, “Genetics and phenomics of hypothyroidism and thyroid dys- and agenesis due to PAX8 and TTF1 mutations,” Molecular & Cellular Endocrinology. 322. 64-71, 2010.

Narumi, S, Muroya, K, Asakura, Y, Adachi, M & Hasegawa, T, “Transcription factor mutations and congenital hypothyroidism: Systematic genetic screening of a population-based cohort of Japanese patients,” J Clin Endocrinol Metabol. 95, 1981–1985, 2010.

National Center for Biotechnology Information (NCBI) 2017, Homo sapiens Annotation release 109, RefSeqGene on chromosome 5 GRCh38.

Khatami M, Heidari MM, Tabesh F, Ordooei M & Salehifar Z “Mutation analysis of NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism,” J Pediatr Endocrinol Metabol. 10, 1-6, 2017.

Green, ED & Green, P, “Sequence tagged site content mapping of human chromosome: Theoretical consideration and early experience,” Genome Research. 1, 77-90, (1991).

Marjia, K, Chowdhury, SS, Khan, TH & Banu, LA, “Identification of mutation in exon2 of the NKX2.5 gene in Bangladeshi pediatric patients with congenital hypothyroidism” Europian journal of medical & health sciences, 2, 5, 2020.

Brust ES, Beltrao CB, Chammas MC, Watanabe T, Sapienza MT & Marui S, “Absence of mutations in PAX8, NKX2.5 and TSH receptor genes in patients with thyroid dysgenesis,” Arch Braz Endocrinol Metab, 56, 173–177, 2012.

Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, Chiovato L, Perri A, Moschini L, Fazzini C, Olivieri A, Costa P, Stoppioni V, Baserga M, De Felice M, Sorcini M, Fenzi G, Di Lauro R, Tartaglia M & Macchia PE, “Missence mutation in the transcription factor NKX2.5: A novel molecular event in the pathogenesis of thyroid dysgenesis,” J Clin Endocrinol Metabol. 91, 4, 1428-1433, 2006.

Downloads

Download data is not yet available.

##plugins.themes.bootstrap3.article.details##

How to Cite
Khatun, M., & Banu, L. A. (2021). A Case Report on Genetic Analysis of Exon2 of Thyroid Transcription Factor 2 Gene in Congenital Hypothyroidism Patient. European Journal of Medical and Health Science, 3(2), 19-21. https://doi.org/10.24018/ejmed.2021.3.2.744