Genetic Analysis of TTF-2 Gene in Children with Congenital Hypothyroidism and Cleft Palate, Congenital Hypothyroidism, or Isolated Cleft Palate

Tonacchera, Massimo; Banco, Mariaelena; Lapi, Paola; Cosmo, Caterina Di; Perri, Anna; Montanelli, Lucia; Moschini, Lidia; Gatti, G; Gandini, D; Massei, Alessandro; Agretti, Patrizia; Marco, Giuseppina De; Vitti, Paolo; Chiovato, Luca; Pinchera, Aldo

doi:10.1089/1050725041692864

Cited by 25 publications

(25 citation statements)

References 22 publications

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“…The length of FOXE1 -polyAla reported in this study varied from 12 to 18 alanines, compared to previous reports [8,10,11,12,13]where a total number of alanine coding triplets ranged from 11 to 19. Alanine expansion may lead to disturbances in protein conformation and potentially affect the process of transcription regulation by impairing specific binding to DNA.…”

Section: Discussioncontrasting

confidence: 77%

“…Thus, it is still to be elucidated whether the same factors are responsible for the development of TH and other forms of TD. A few studies have pointed to the potential role of FOXE1 -polyAla length polymorphism in determining the susceptibility to TD [8,10,11,12,13]. However, the evaluation of its length in a large group of patients with TH has not been conducted so far.…”

Section: Introductionmentioning

confidence: 99%

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FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid

Szczepanek¹,

Ruchała²,

Szaflarski³

et al. 2011

Horm Res Paediatr

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Background/Aims: Recent studies have pointed to the correlation between FOXE1 polyalanine tract (FOXE1-polyAla) length polymorphism and genetic susceptibility to thyroid dysgenesis causing congenital hypothyroidism. The objective of this study was a first assessment of the role of FOXE1-polyAla expansion in the genetic background of thyroid hemiagenesis (TH). Methods: The group studied consisted of 40 patients with TH, including 6 familial cases and a control group of 89 subjects with a normal thyroid. The polyAla tract and flanking sequence of FOXE1 was amplified using conventional PCR. Subsequently, capillary electrophoresis was performed to estimate the length of products. Results: A short variant of FOXE1-polyAla, containing 12 alanines, was present in 5 control subjects (5.6%), but was not found in TH. The incidence of longer variants (≧16 codons) of FOXE1-polyAla was significantly higher in patients with the familial form of TH in comparison to those with sporadic TH (p = 0.003) and controls (p = 0.005). Conclusions: There is high polymorphic variability of FOXE1-polyAla in both groups. Shorter variants of FOXE1-polyAla are underrepresented in subjects with familial TH. Therefore, FOXE1-polyAla tract expansion may contribute to the molecular background of familial but not sporadic forms of TH. Further studies are still required to confirm such findings.

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Section: Discussioncontrasting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid

Szczepanek¹,

Ruchała²,

Szaflarski³

et al. 2011

Horm Res Paediatr

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“…Bell et al reported that of 169 neonates who had neonatal hypoglycemia due to GH deficiency, over one-third had anatomical lesions either in the hypothalamic-pituitary area or midline facial defects, and over half of males had micropenis (42). In male infants, GH deficiency can present as micropenis as well as prolonged hypoglycemia and hyperbilirubinemia in the neonatal period.…”

Section: Discussionmentioning

confidence: 99%

Endocrine abnormalities of patients with cleft lip and/or cleft palate during the neonatal period

Akın¹,

Kurtoğlu²,

Sarıcı³

et al. 2014

Turk J Med Sci

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IntroductionCultivated strawberry, Fragaria × ananassa, is the natural hybrid of F. chiloensis and F. virginiana and is thought to be only about 300 years old (Hancock, 1999). Earlier researchers have reported that the cultivated strawberry has very narrow genetic diversity when compared with its progenitor species (Dale and Sjulin, 1990;Hancock, 2006;Horvath et al., 2011). Since the progenitor species can easily be crossed with the cultivated strawberry, several attempts have been made to utilize the wild species to expand the genetic base of cultivated strawberry. An example of successful utilization of the wild species includes the introgression of day-neutrality from F. virginiana subsp.

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“…However, screening for FOXE1 mutations in a large cohort of children with CH due to TD with or without cleft palate showed few mutations [[22], personal data], suggesting that FOXE1 may not be a key factor in thyroid development.…”

Section: Human Foxe1 Genementioning

confidence: 99%

Spectrum of Human <i>Foxe1/TTF2</i> Mutations

Castanet¹,

Polak²

2010

Horm Res Paediatr

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FOXE1 (or TTF-2) has been recognized as one of the thyroid dysgenesis (TD)-related genes based on its early expression at the thyroid bud stage and on the finding in Foxe1 knock-out mice of a sublingual or absent thyroid gland. In humans, three homozygous loss-of-function missense mutations located within the forkhead domain have been reported in 5 patients with Bamforth syndrome. This syndrome is a rare inherited condition whose main features are congenital hypothyroidism (CH) due to TD (usually athyreosis), cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis. These FOXE1 mutations were typically inherited from heterozygous carrier parents who were usually consanguineous. Recently, a novelmissense mutation was found in a patient with sporadic Bamforth syndrome, inherited via uniparental isodisomy. Altogether these observations strongly suggest that FOXE1 is involved in both familial and sporadic syndromic CH due to TD in association with cleft palate. Nevertheless, despite intensive research, FOXE1 mutations have been identified in only a minority of the affected patients. Recent data suggest that the transcription factor encoded by FOXE1 may act as a susceptibility factor for TD via variations in FOXE1 polyalanine tract length, which may modulate the risk of TD.

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Genetic Analysis of TTF-2 Gene in Children with Congenital Hypothyroidism and Cleft Palate, Congenital Hypothyroidism, or Isolated Cleft Palate

Cited by 25 publications

References 22 publications

FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid

FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid

Endocrine abnormalities of patients with cleft lip and/or cleft palate during the neonatal period

Spectrum of Human <i>Foxe1/TTF2</i> Mutations

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