Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypertonie-Brachydaktylie-Syndrom

Das Syndrom der Hypertonie mit Brachydaktylie ist eine autosomal dominante Erkrankung die durch Mutationen des PDE3A-Gens hervorgerufen wird.

Symptome

Brachydaktylie
Die Verkürzung der Finger ist gewöhnlich das erste Zeichen dieser Erkrankung, da der Hypertonus oft unbemerkt über Jahre besteht.
Hypertonie
Im Zusammenhang mit dem Hypertonus fallen keine weiteren körperlichen Störungen bis auf die Brachydaktylie auf.

Gliederung

Monogener Hypertonus
Apparenter Mineralocortocoid Exzess
Glycocorticoid getriggerter Hypertonus
Hyperaldosteronismus
Hypertonie-Brachydaktylie-Syndrom
PDE3A
Liddle-Syndrom
Pseudohypoaldosteronismus

Referenzen:

1.

Bilginturan N et. al. (1973) Hereditary brachydactyly associated with hypertension.

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2.

Maass PG et. al. (2015) PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

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3.

Nagai T et. al. (1995) Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

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4.

Schuster H et. al. (1996) Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12.

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5.

Schuster H et. al. (1996) Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension.

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6.

Bähring S et. al. (1997) Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family.

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7.

Naraghi R et. al. (1997) Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachydactyly.

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8.

Chitayat D et. al. (1997) Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

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9.

Toka HR et. al. (1998) Families with autosomal dominant brachydactyly type E, short stature, and severe hypertension.

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10.

Hattenbach LO et. al. (1998) Absence of hypertensive retinopathy in a Turkish kindred with autosomal dominant hypertension and brachydactyly.

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11.

Gong M et. al. (2003) Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.

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12.

Luft FC et. al. (2003) Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology.

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13.

Bähring S et. al. (2008) Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.

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