H. Woffendin et al., X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation, CLIN GENET, 55(1), 1999, pp. 55-60
Citations number
13
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Familial incontinentia pigmenti (IP) is an X-linked dominant disorder with
an extremely variable clinical presentation. Ambiguous diagnosis can compli
cate 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 be
tween the disease locus and Xq28 loci has occurred and suggest that mosaici
sm is responsible for the discrepancy in one family.