Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Brachydaktylie Typ A1, A

Die Brachydaktylie vom Typ A1, A ist eine autosomal dominante Erkrankung, die durch Mutationen im IHH-Gen hervorgerufen wird. Charakteristisch ist die Verkürzung der Mittelphalangen aller Finger. Neben dem Kleinwuchs sind weitere Skelettabnormalitäten zu beobachten.

Gliederung

Brachydaktylie Typ A1
Brachydaktylie Typ A1, A
IHH
Brachydaktylie Typ A1, B
Brachydaktylie Typ A1, C
Brachydaktylie Typ A1, D

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: 26. September 2018

 

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