title: Utility of molecular studies in incontinentia pigmenti patients.
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.
authors.affiliation: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. seemat3030@sify.com
authors.forename: Seema
authors.initials: S
authors.lastname: Thakur
authors.forename: Ratna D
authors.initials: RD
authors.lastname: Puri
authors.forename: Sudha
authors.initials: S
authors.lastname: Kohli
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D033142:Genetic Services; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D009154:Mutation / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D011296:Prenatal Diagnosis; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D051550:I-kappa B Kinase