Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Thyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and daughter with congenital hypothyroidism caused by different forms of thyroid dysgenesis. The father had a severely hypoplastic thyroid gland in a normal location, whereas the daughter had an ectopic thyroid gland in a sublingual position. Her brother had a hypoplastic thyroid but was euthyroid. The involvement of the candidate gene, PAX8, as the cause of thyroid dysgenesis in this family was partially excluded by linkage analysis, and the possibility of a de novo mutation excluded by sequencing.
Bereket
Abdullah
A
Department of Pediatrics, Division of Pediatric Endocrinology, Marmara University, Istanbul, Turkey. abereket@e-kolay.net
Liao
Xiao-Hui
XH
Turoglu
Turgut
T
Aribal
Erkin
E
Refetoff
Samuel
S
D000328:Adult; D001483:Base Sequence; D003409:Congenital Hypothyroidism; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D011877:Radionuclide Imaging; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000000981:diagnostic imaging / Q000473:pathology*; D015534:Trans-Activators / Q000235:genetics*
D017931:DNA Primers; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; D015534:Trans-Activators