Utility of molecular studies in incontinentia pigmenti patients.
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Date
2011-04
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Abstract
The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.
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Keywords
Incontinentia pigmenti (IP), NEMO gene, skin lesions
Citation
Thakur Seema, Puri Ratna D, Kohli Sudha, Saxena Renu, Verma I C. Utility of molecular studies in incontinentia pigmenti patients. Indian Journal of Medical Research. 2011 Apr; 133(4): 442-445.