X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
Authors: Woffendin, Hayley1; Jakins, Tracy1; Jouet, Monique; Stewart, Helen2; Landy, Sarah2; Haan, Eric3; Harris, Ann4; Donnai, Dian2; Read, Andrew2; Kenwrick, Sue1
Source: Clinical Genetics, Volume 55, Number 1, January 1999 , pp. 55-60(6)
Publisher: Blackwell Publishing
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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.Keywords: incontinentia pigmenti; mosaic; X-inactivation; Xq28
Document Type: Research article
DOI: 10.1034/j.1399-0004.1999.550110.x
Affiliations: 1: Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, 2: Department of Medical Genetics, St Mary's Hospital, Manchester M13 OJH, UK, 3: Department of Medical Genetics, Women's and Children's Hospital, North Adelaide 5006, South Australia, 4: Paediatric Molecular Genetics, Institute of Molecular Medicine, Oxford OX3 9DU, UK
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