Congenital hypothyroidism (CH) may cause severe and irreversible neurologic and developmental abnormalities when not recognized early. Many millions of newborns have now been screened and many thousands of patients with CH have been identified. Approximately 80%-85% have defects of thyroid gland development, while 15%-20% have congenital errors of thyroid hormone biosynthesis. An entire population screened for CH over a long period of time, was studied in the present report, using a population-based approach. In particular, two CH phenotypes, both presenting with in situ thyroid gland (patients with either goiter or with thyroid gland volume ranging from normal to hypoplasic) were analyzed. Mutations were searched in some of the most likely candidate genes: thyroperoxidase (TPO) in patients with CH goiter, Pax8 and thyrotropin receptor (TSHR) in the other group. In the former group (n = 8), four TPO gene mutations were identified in three patients. One patient was a compound heterozygous. In two cases an already described mutation (1277insGGCC) was present; in two other cases mutations not previously described (1996G → T and 2295G → A), which induced aminoacid variations with a Glu → Stop and Val → Ile changes, respectively, were identified. In all patients mutations were inherited from one of the parents. In the case of the compound heterozygous patient, one mutation was inherited from the mother (1277insGGCC) and the other from the father (1996G → T, Glu → Stop). In the latter group (n = 8), a patient with a 16-base pair C(T)13CC deletion in TSHR gene intron 8, 42-bp distal to exon/intron 8 splice junction, was identified. No mutation was identified in Pax8 gene.

Genetics of specific phenotypes of congenital hypothyroidism: A population-based approach / Calaciura, F.; Miscio, G.; Coco, A.; Leonardi, D.; Cisternino, C.; Regalbuto, C.; Bozzali, M.; Maiorana, R.; Ranieri, A.; Carta, A.; Buscema, M.; Trischitta, V.; Sava, L.; Tassi, V.. - In: THYROID. - ISSN 1050-7256. - 12:11(2002), pp. 945-951. [10.1089/105072502320908277]

Genetics of specific phenotypes of congenital hypothyroidism: A population-based approach

Cisternino C.;Trischitta V.;
2002

Abstract

Congenital hypothyroidism (CH) may cause severe and irreversible neurologic and developmental abnormalities when not recognized early. Many millions of newborns have now been screened and many thousands of patients with CH have been identified. Approximately 80%-85% have defects of thyroid gland development, while 15%-20% have congenital errors of thyroid hormone biosynthesis. An entire population screened for CH over a long period of time, was studied in the present report, using a population-based approach. In particular, two CH phenotypes, both presenting with in situ thyroid gland (patients with either goiter or with thyroid gland volume ranging from normal to hypoplasic) were analyzed. Mutations were searched in some of the most likely candidate genes: thyroperoxidase (TPO) in patients with CH goiter, Pax8 and thyrotropin receptor (TSHR) in the other group. In the former group (n = 8), four TPO gene mutations were identified in three patients. One patient was a compound heterozygous. In two cases an already described mutation (1277insGGCC) was present; in two other cases mutations not previously described (1996G → T and 2295G → A), which induced aminoacid variations with a Glu → Stop and Val → Ile changes, respectively, were identified. In all patients mutations were inherited from one of the parents. In the case of the compound heterozygous patient, one mutation was inherited from the mother (1277insGGCC) and the other from the father (1996G → T, Glu → Stop). In the latter group (n = 8), a patient with a 16-base pair C(T)13CC deletion in TSHR gene intron 8, 42-bp distal to exon/intron 8 splice junction, was identified. No mutation was identified in Pax8 gene.
2002
Congenital Hypothyroidism; DNA-Binding Proteins; Goiter; Humans; Hypothyroidism; Infant, Newborn; PAX8 Transcription Factor; Paired Box Transcription Factors; Phenotype; Polymorphism, Single Nucleotide; Population; Receptors, Thyrotropin; Thyroid Gland; Trans-Activators; Genetic Testing; Nuclear Proteins
01 Pubblicazione su rivista::01a Articolo in rivista
Genetics of specific phenotypes of congenital hypothyroidism: A population-based approach / Calaciura, F.; Miscio, G.; Coco, A.; Leonardi, D.; Cisternino, C.; Regalbuto, C.; Bozzali, M.; Maiorana, R.; Ranieri, A.; Carta, A.; Buscema, M.; Trischitta, V.; Sava, L.; Tassi, V.. - In: THYROID. - ISSN 1050-7256. - 12:11(2002), pp. 945-951. [10.1089/105072502320908277]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1414839
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