OMIM: 274500Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | TPO |
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| Dna Change: | c.1618C>T |
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| Protein Change: | p.Arg540X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 10 |
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| Transcript: | NM_000547.5 |
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| Gene/Locus: | TPO |
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| Dna Change: | c.955G>A |
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| Protein Change: | p.Gly319Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_000547.5 |
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| Gene/Locus: | TPO |
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| Dna Change: | c.875C>T |
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| Protein Change: | p.Ser292Phe |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_000547.5 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 3 families | NA | Bougacha-Elleuch N et al., 2015Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M, . Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.. Eur. J. Pediatr.. 2015; 0(0): |
References
Baş VN, Aycan Z, Cangul H, Kendall M, Ağladıoğlu SY, Çetinkaya S, Maher ER, A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.J. Pediatr. Endocrinol. Metab.. 2014; 27(3):383-7
Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M, Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.Eur. J. Pediatr.. 2015; 0(0):
Ozbek MN, Uslu AB, Onenli-Mungan N, Yuksel B, Pohlenz J, Topaloglu AK, Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.J. Pediatr. Endocrinol. Metab.. 2009; 22(11):1033-9