Identification of a novel mutation 3β-hydroxysteroid-Δ8-Δ7-isomerase in a case of Conradi-Hünermann-Happle syndrome

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15 Citations (Scopus)

Abstract

The X-linked dominant Conradi-Hünermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3β-hydroxysteroid-Δ8-Δ7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C→G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.

Original languageEnglish
Pages (from-to)286-289
Number of pages4
JournalExperimental Dermatology
Volume10
Issue number4
DOIs
Publication statusPublished - 2001

Fingerprint

Chondrodysplasia Punctata
Hydroxysteroids
Isomerases
Carrier Proteins
Lanosterol
Mutation
Missense Mutation
Exons
Substitution reactions
Cholesterol
emopamil

Keywords

  • Emopamil-binding protein
  • Mutation-analysis
  • X-dominant chondrodysplasia punctata

ASJC Scopus subject areas

  • Dermatology

Cite this

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title = "Identification of a novel mutation 3β-hydroxysteroid-Δ8-Δ7-isomerase in a case of Conradi-H{\"u}nermann-Happle syndrome",
abstract = "The X-linked dominant Conradi-H{\"u}nermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3β-hydroxysteroid-Δ8-Δ7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C→G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.",
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author = "K. Becker and M. Csik{\'o}s and A. Horv{\'a}th and S. K{\'a}rp{\'a}ti",
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T1 - Identification of a novel mutation 3β-hydroxysteroid-Δ8-Δ7-isomerase in a case of Conradi-Hünermann-Happle syndrome

AU - Becker, K.

AU - Csikós, M.

AU - Horváth, A.

AU - Kárpáti, S.

PY - 2001

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N2 - The X-linked dominant Conradi-Hünermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3β-hydroxysteroid-Δ8-Δ7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C→G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.

AB - The X-linked dominant Conradi-Hünermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3β-hydroxysteroid-Δ8-Δ7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C→G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.

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KW - Mutation-analysis

KW - X-dominant chondrodysplasia punctata

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DO - 10.1034/j.1600-0625.2001.100409.x

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