Thakur, SeemaPuri, Ratna DKohli, SudhaSaxena, RenuVerma, I C2011-12-052011-12-052011-04Thakur 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.http://imsear.searo.who.int/handle/123456789/135673The 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.enIncontinentia pigmenti (IP)NEMO geneskin lesionsChildChild, PreschoolFemaleGenetic CounselingGenetic ServicesHumansI-kappa B Kinase --geneticsIncontinentia Pigmenti --diagnosisIncontinentia Pigmenti --geneticsInfantMutation --geneticsNuclear FamilyPedigreePregnancyPregnancy Complications --geneticsPrenatal DiagnosisSequence Deletion --geneticsArticle