Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Bamforth-Lazarus-Syndrom

Bamforth-Lazarus-Syndrom ist eine autosomal rezessive Erkrankung mit fehlender Schilddrüse, die durch Mutationen im FOXE1-gen ausgelöst wird.

Gliederung

Hypothyreose
Bamforth-Lazarus-Syndrom
FOXE1
Choreoathetose mit Hypothyreose und neonatalem Atemnotsyndrom
Kongenitale Hypothyreose ohne Struma
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Thyroiddyshormonogenesis
Zentrale Hypothyreose

Referenzen:

1.

Bamforth JS et. al. (1989) Congenital hypothyroidism, spiky hair, and cleft palate.

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2.

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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3.

Castanet M et. al. (2002) A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

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4.

Baris I et. al. (2006) A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

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5.

Buntincx IM et. al. (1993) Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.

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