X-inactivation and marker studies in three families with incontinentia pigmenti: Implications for counselling and gene localisation

Hayley Woffendin, Tracy Jakins, Monique Jouet, Helen Stewart, Sarah Landy, Eric Haan, Ann Harris, Dian Donnai, Andrew Read, Sue Kenwrick, Susan Kenwrick

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Familial incontinentia pigmenti (IP) is an X-linked dominant disorder with an extremely variable clinical presentation. Ambiguous diagnosis can complicate genetic counselling and attempts to refine the gene location in Xq28. Marked skewing of X-inactivation patterns is a hallmark of IP and provides a means for investigating uncertain cases. We have conducted X-inactivation studies in three families where Xq28 marker studies were at odds with the original clinical assessment. The results indicate that no recombination between the disease locus and Xq28 loci has occurred and suggest that mosaicism is responsible for the discrepancy in one family.

Original languageEnglish (US)
Pages (from-to)55-60
Number of pages6
JournalClinical Genetics
Volume55
Issue number1
DOIs
StatePublished - 1999

Keywords

  • Incontinentia pigmenti
  • Mosaic
  • X-inactivation
  • Xq28

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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