Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Hypothyreose ohne Struma 2

Die kongenitale Hypothyreose ohne Struma 2 ist eine autosomal dominante Erkrankung, die durch Mutationen im PAX8-Gen ausgelöst wird.

Gliederung

Kongenitale Hypothyreose ohne Struma
Kongenitale Hypothyreose ohne Struma 1
Kongenitale Hypothyreose ohne Struma 2
PAX8
Kongenitale Hypothyreose ohne Struma 3
Kongenitale Hypothyreose ohne Struma 4
Kongenitale Hypothyreose ohne Struma 5
Kongenitale Hypothyreose ohne Struma 6

Referenzen:

1.

Macchia PE et. al. (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

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2.

Vilain C et. al. (2001) Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

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3.

Congdon T et. al. (2001) A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

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4.

Meeus L et. al. (2004) Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

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5.

Grasberger H et. al. (2005) Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.

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6.

Park SM et. al. (2005) Genetics of congenital hypothyroidism.

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7.

Clifton-Bligh RJ et. al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

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8.

De Felice M et. al. (2004) Thyroid development and its disorders: genetics and molecular mechanisms.

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9.

BLIZZARD RM et. al. (1960) Maternal autoimmunization to thyroid as a probable cause of athyrotic cretinism.

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10.

SUTHERLAND JM et. al. (1960) Familial nongoitrous cretinism apparently due to maternal antithyroid antibody. Report of a family.

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11.

SHEPARD TH et. al. (1960) Increased incidence of non-tasters of phenylthiocarbamide among congenital athyreotic cretins.

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12.

None (1962) The role of thyroid dysgenesis and maldescent in the etiology of sporadic cretinism.

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13.

NAJJAR SS et. al. (1965) THE KOCHER-DEBR'E-S'EM'ELAIGNE SYNDROME; HYPOTHYROIDISM WITH MUSCULAR "HYPERTROPHY".

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14.

AINGER LE et. al. (1955) Familial athyreotic cretinism: report of 3 cases.

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15.

Castanet M et. al. (2005) Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.

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16.

None (1961) PHENYLTHIOCARBAMIDE NON-TASTING AMONG CONGENITAL ATHYROTIC CRETINS: FURTHER STUDIES IN AN ATTEMPT TO EXPLAIN THE INCREASED INCIDENCE.

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17.

Kaplan M et. al. (1978) Ectopic thyroid gland. A clinical study of 30 children and review.

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18.

Donegan JO et. al. (1985) Intratracheal thyroid--familial occurrence.

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19.

Little G et. al. (1965) "Cryptothyroidism", the major cause of sporadic "athyreotic" cretinism.

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20.

Cross HE et. al. (1968) Familial agoitrous cretinism accompanied by musclar hypertrophy.

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21.

Greig WR et. al. (1966) Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child.

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22.

None (1983) Second International Conference on Neonatal Thyroid Screening: progress report.

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23.

Brown AL et. al. (1981) Racial differences in the incidence of congenital hypothyroidism.

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24.

Goujard J et. al. (1981) [Epidemiology of hypothyroidism due to congenital malformation of the gland: athyreosis or ectopic thyroid (author's transl)].

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25.

Rosenberg T et. al. (1980) Familial thyroid ectopy and hemiagenesis.

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26.

None (1993) Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia.

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27.

Lapi P et. al. (1997) Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.

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28.

Castanet M et. al. (2000) Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism.

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29.

Castanet M et. al. (2001) Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors.

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30.

Léger J et. al. (2002) Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism.

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31.

Perry R et. al. (2002) Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

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32.

CHILDS B et. al. (1954) Etiologic factors cases.

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33.

None (1961) Cretinism and taste sensitivity to phenylthiocarbamide.

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