Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment

Jonathan (Jon) Zonana, J. Gault, K. J P Davies, M. Jones, D. Browne, M. Litt, N. Brockdorff, S. Rastan, A. Clarke, N. S T Thomas

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Abstract

X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven genetic loci within the Xq12-13 region. A single individual was identified with a deletion at the DXS732 locus by hybridization with the mouse genomic probe pcos169E/4. This highly conserved DNA probe is from locus DXCrc169, which is tightly linked to the Ta locus, the putative mouse homologue of EDA. The proband had the classical phenotype of EDA, with no other phenotypic abnormalities, and a normal cytogenetic analysis. A human genomic DNA clone, homologous to pcos169E/4, was isolated from a human X-chromosome cosmid library. On hybridization with the cosmid, the proband was found to be only partially deleted at the DXS732 locus, with a unique junctional fragment identified in the proband and in three of his maternal relatives. This is the first determination of carrier status for EDA in females, by direct mutation analysis. Failure to detect deletion of the other loci tested in the proband suggests that the DXS732 locus is the closest known locus to the EDA gene. Since the DXS732 locus contains a highly conserved sequence, it must be considered to be a candidate locus for the EDA gene itself.

Original languageEnglish (US)
Pages (from-to)78-84
Number of pages7
JournalAmerican Journal of Human Genetics
Volume52
Issue number1
StatePublished - Jan 1993

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Anhidrotic Ectodermal Dysplasia 1
Ectodermal Dysplasia
Cosmids
Chromosomes, Human, X
Genetic Loci
Conserved Sequence
Cytogenetic Analysis
DNA
DNA Probes
Genes
Clone Cells
Mothers
Phenotype
Mutation

ASJC Scopus subject areas

  • Genetics

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Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. / Zonana, Jonathan (Jon); Gault, J.; Davies, K. J P; Jones, M.; Browne, D.; Litt, M.; Brockdorff, N.; Rastan, S.; Clarke, A.; Thomas, N. S T.

In: American Journal of Human Genetics, Vol. 52, No. 1, 01.1993, p. 78-84.

Research output: Contribution to journalArticle

Zonana, Jonathan (Jon) ; Gault, J. ; Davies, K. J P ; Jones, M. ; Browne, D. ; Litt, M. ; Brockdorff, N. ; Rastan, S. ; Clarke, A. ; Thomas, N. S T. / Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. In: American Journal of Human Genetics. 1993 ; Vol. 52, No. 1. pp. 78-84.
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abstract = "X-linked hypohidrotic ectodermal dysplasia (EDA) has been localized to the Xq12-q13.1 region. A panel of genomic DNA samples from 80 unrelated males with EDA has been screened for deletions at seven genetic loci within the Xq12-13 region. A single individual was identified with a deletion at the DXS732 locus by hybridization with the mouse genomic probe pcos169E/4. This highly conserved DNA probe is from locus DXCrc169, which is tightly linked to the Ta locus, the putative mouse homologue of EDA. The proband had the classical phenotype of EDA, with no other phenotypic abnormalities, and a normal cytogenetic analysis. A human genomic DNA clone, homologous to pcos169E/4, was isolated from a human X-chromosome cosmid library. On hybridization with the cosmid, the proband was found to be only partially deleted at the DXS732 locus, with a unique junctional fragment identified in the proband and in three of his maternal relatives. This is the first determination of carrier status for EDA in females, by direct mutation analysis. Failure to detect deletion of the other loci tested in the proband suggests that the DXS732 locus is the closest known locus to the EDA gene. Since the DXS732 locus contains a highly conserved sequence, it must be considered to be a candidate locus for the EDA gene itself.",
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