Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

E. M. Lodder; A. J. M. Hoogeboom; J. H. Coert; E. de Graaff

doi:https://doi.org/10.1002/ajmg.a.32441

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

E. M. Lodder, A. J. M. Hoogeboom, J. H. Coert, E. de Graaff

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16 Citations (Scopus)

Abstract

Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule involved in chondrocyte formation. So far, only missense mutations in IHH have been reported to cause BrachydactylyA1. We report here on the first deletion in IHH, p.delE95, causing mild BrachydactylyA1 in a small Dutch family. This brings the total number of different mutations found to cause BDA1 to 7

Original language	English
Pages (from-to)	2152-2154
Journal	American journal of medical genetics. Part A
Volume	146A
Issue number	16
DOIs	https://doi.org/10.1002/ajmg.a.32441
Publication status	Published - 2008

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https://doi.org/10.1002/ajmg.a.32441

Cite this

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title = "Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1",

abstract = "Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule involved in chondrocyte formation. So far, only missense mutations in IHH have been reported to cause BrachydactylyA1. We report here on the first deletion in IHH, p.delE95, causing mild BrachydactylyA1 in a small Dutch family. This brings the total number of different mutations found to cause BDA1 to 7",

author = "Lodder, {E. M.} and Hoogeboom, {A. J. M.} and Coert, {J. H.} and {de Graaff}, E.",

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T1 - Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

AU - Lodder, E. M.

AU - Hoogeboom, A. J. M.

AU - Coert, J. H.

AU - de Graaff, E.

PY - 2008

Y1 - 2008

N2 - Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule involved in chondrocyte formation. So far, only missense mutations in IHH have been reported to cause BrachydactylyA1. We report here on the first deletion in IHH, p.delE95, causing mild BrachydactylyA1 in a small Dutch family. This brings the total number of different mutations found to cause BDA1 to 7

AB - Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog (IHH) gene were shown to be the cause of this autosomal dominant disorder. The IHH protein is known to be an important signaling molecule involved in chondrocyte formation. So far, only missense mutations in IHH have been reported to cause BrachydactylyA1. We report here on the first deletion in IHH, p.delE95, causing mild BrachydactylyA1 in a small Dutch family. This brings the total number of different mutations found to cause BDA1 to 7

U2 - https://doi.org/10.1002/ajmg.a.32441

DO - https://doi.org/10.1002/ajmg.a.32441

M3 - Article

C2 - 18629882

SN - 1552-4825

VL - 146A

SP - 2152

EP - 2154

JO - American journal of medical genetics. Part A

JF - American journal of medical genetics. Part A

IS - 16

ER -