Amish, Mennonite, and Hutterite
Genetic Disorder Database

Genetic Defect in Thyroid Hormonogenesis 2A

Disorder
OMIM #: #274500  (Click to access OMIM database)
Disorder: Genetic Defect in Thyroid Hormonogenesis 2A 
Also known as: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2A, IODIDE PEROXIDASE DEFICIENCY, THYROID PEROXIDASE DEFICIENCY, THYROID HORMONE ORGANIFICATION DEFECT II, TOTAL IODIDE ORGANIFICATION DEFECT, INCLUDED
TIOD, INCLUDED 
Clinical
Phenotype: complete iodide organification defect, hypothyroidism, developmental delay/mental retardation, large goiter 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: TPO, E14 region
Base Change: G>A, at nucleotide 2485
Amino Acid Change: glu 799 --> lys
2   Amish  
Gene: APO, E11 region
Base Change: G>A, at nucleotide 2033
Amino Acid Change: arg 648 --> gln
Last updated: 2009-03-15 

References
Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, and Refetoff S. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab 84(3): 1061-1071.
PubMed ID: 10084596 

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