Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
Nature genetics, 2001•nature.com
Abstract Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or
missing of the middle phalanges. It was first identified by Farabee in 1903 (ref.), is the first
recorded example of a human anomaly with Mendelian autosomal-dominant inheritance
and, as such, is cited in most genetic and biological textbooks. Here we show that mutations
in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three
heterozygous missense mutations in the region encoding the amino-terminal signaling …
missing of the middle phalanges. It was first identified by Farabee in 1903 (ref.), is the first
recorded example of a human anomaly with Mendelian autosomal-dominant inheritance
and, as such, is cited in most genetic and biological textbooks. Here we show that mutations
in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three
heterozygous missense mutations in the region encoding the amino-terminal signaling …
Abstract
Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges . It was first identified by Farabee in 1903 (ref. ), is the first recorded example of a human anomaly with Mendelian autosomal-dominant inheritance and, as such, is cited in most genetic and biological textbooks. Here we show that mutations in IHH, which encodes Indian hedgehog, cause BDA-1. We have identified three heterozygous missense mutations in the region encoding the amino-terminal signaling domain in all affected members of three large, unrelated families. The three mutant amino acids, which are conserved across all vertebrates and invertebrates studied so far, are predicted to be adjacent on the surface of IHH.
Figure 1
Phenotype of BDA-1 and pedigree structure
a, The hands and feet of an affected individual in family III. In some affected individuals all middle phalanges are missing or fused to the distal phalanges; in others, one to three fingers or toes have missing or fused phalanges. b, Affected individual with two children (the affected child is on the right) in family III. Note short stature. c, BDA-1 pedigrees I, II and III; affected individuals are denoted by filled symbols.
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