Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Brachydaktylie Typ A1

Die Brachydaktylie vom Typ Farabee ist eine autosomal dominante Erkrankung mit unterschiedlichem genetischen Hintergrund. Charakteristisch ist die Verkürzung der Mittelphalangen aller Finger. Neben dem Kleinwuchs sind weitere Skelettabnormalitäten zu beobachten.

Gliederung

Brachydaktylie
Brachydactylie kombiniert Typ B und E
Brachydaktylie Typ A1
Brachydaktylie Typ A1, A
IHH
Brachydaktylie Typ A1, B
Brachydaktylie Typ A1, C
GDF5
Brachydaktylie Typ A1, D
BMPR1B
Brachydaktylie Typ A2
Brachydaktylie Typ A3
Brachydaktylie Typ A4
Brachydaktylie Typ B1
Brachydaktylie Typ B2
Brachydaktylie Typ C
Brachydaktylie Typ D
Brachydaktylie Typ E1
Brachydaktylie Typ E2
Brachydaktylie-Syndaktylie
Fibula-Aplasie - komplexe Brachydaktylie

Referenzen:

1.

Gao B et. al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

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2.

McCready ME et. al. (2002) A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

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3.

Kirkpatrick TJ et. al. (2003) Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.

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4.

HAWS DV et. al. (1963) FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.

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5.

McCready ME et. al. (2005) A century later Farabee has his mutation.

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6.

Liu M et. al. (2006) A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

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7.

Zhu G et. al. (2007) Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.

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8.

Lodder EM et. al. (2008) Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.

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9.

None (1979) Julia Bell.

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10.

None (1979) Classification and identification of inherited brachydactylies.

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11.

Piussan C et. al. (1983) [Regular dominance of thumb ankylosis with mental retardation transmitted over 3 generations].

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12.

Mastrobattista JM et. al. (1995) Evaluation of candidate genes for familial brachydactyly.

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13.

Yang X et. al. (2000) A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

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14.

Lacombe D et. al. (2010) Brachydactyly type A1 with short humerus and associated skeletal features.

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Update: 31. März 2018