Gene: thyroid peroxidase; TPO


Gene Symbol: TPO
OMIM: 606765
Chromosome location: 2p25.3

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Thyroid dyshormonogenesis 2A || c.1618C>T

Phenotype:    Thyroid dyshormonogenesis 2A
Dna Change:    c.1618C>T
Protein Change:    p.Arg540X
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 10
Transcript:    NM_000547.5

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA2 families/ 3 familiesNAOzbek MN et al., 2009Ozbek 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

Thyroid dyshormonogenesis 2A || c.955G>A

Phenotype:    Thyroid dyshormonogenesis 2A
Dna Change:    c.955G>A
Protein Change:    p.Gly319Arg
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 8
Transcript:    NM_000547.5

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA2 patients/1 familyNABaş VN et al., 2014Baş 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

Thyroid dyshormonogenesis 2A || c.875C>T

Phenotype:    Thyroid dyshormonogenesis 2A
Dna Change:    c.875C>T
Protein Change:    p.Ser292Phe
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 8
Transcript:    NM_000547.5

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA3 familiesNABougacha-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