[Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone].
Resistance to thyroid hormone (RTH) is a rare genetic disorder, usually associated with different mutations in the c-erbAB gene that encodes the beta type receptor of thyroid hormone (TRB). It is characterized by elevated serum thyroid hormone and inappropriate TSH secretion. The numerous mutations so far detected are clustered in three hot spot areas in the ligand binding domain of TRB. In the context of a national survey we have detected 16 different mutations in the c-erbAB gene, in 22 families presenting with RTH. Eight of these mutations had not been described previously. Two are located in an area not known to harbor naturally occurring mutations. This observation could lead to define a fourth cluster of mutations in the c-erbAB gene.
Margotat
A
A
INSERM U476 Faculté de Médecine, 27, boulevard Jean-Moulin, 13385 Marseille Cedex 5.
Sarkissian
G
G
Malezet-Desmoulins
C
C
Peyrol
N
N
Vlaeminck Guillem
V
V
Wémeau
J L
JL
Torresani
J
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001665:Binding Sites; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011988:Receptors, Thyroid Hormone / Q000737:chemistry / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*; D013963:Thyroid Hormones / Q000097:blood; D013972:Thyrotropin / Q000378:metabolism; D014284:Triiodothyronine / Q000378:metabolism
D011988:Receptors, Thyroid Hormone; D013963:Thyroid Hormones; D014284:Triiodothyronine; D013972:Thyrotropin