Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Donnai-Barrow-Syndrom

Das FOAR-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen des LRP2-Gens hervorgerufen wird. Das klinische Bild ist geprägt von einer diaphragmalen Hernie, Exomphalos, fehlendes Corpus callosum, Hypertelorismus, Myopie, Innenohrschwerhörigkeit und Proteinurie.

Gliederung

Endozytosestörungen der proximalen Tubulusfunktion
Donnai-Barrow-Syndrom
LRP2
Imerslund-Grasbeck-Syndrom

Referenzen:

1.

Chassaing N et. al. (2003) Donnai-Barrow syndrome: four additional patients.

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2.

Kantarci S et. al. (2007) Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

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3.

Donnai D et. al. (1993) Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?

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4.

Devriendt K et. al. (1998) Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.

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5.

OHLSSON L et al. (1963) CONGENITAL RENAL DISEASE, DEAFNESS AND MYOPIA IN ONE FAMILY.

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6.

Holmes LB et al. (1972) Syndrome of ocular and facial anomalies, telecanthus, and deafness.

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7.

Gripp KW et al. (1997) Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.

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8.

Schowalter DB et al. (1997) Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review.

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