Norrie disease: first mutation report and prenatal diagnosis in an Indian family.
Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.3. The authors describe mutation analysis of a proband with ND and subsequently prenatal diagnosis. Sequence analysis of the NDP gene revealed a hemizygous missense mutation arginine to serine in codon 41 (p.Arg41Ser) in the affected child. Mother was carrier for the mutation. In a subsequent di-chorionic di-amniotic pregnancy, the authors performed prenatal diagnosis by mutation analysis on chorionic villi sample at 11 wk of gestation. The fetuses were unaffected. This is a first mutation report and prenatal diagnosis of a familial case of Norrie disease from India. The importance of genetic testing of Norrie disease for confirmation, carrier testing, prenatal diagnosis and genetic counseling is emphasized.
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
Manju
M
Ghosh
Shipra
S
Sharma
Shivaram
S
Shastri
Sadhna
S
Arora
Rashmi
R
Shukla
Neerja
N
Gupta
Deepika
D
Deka
Madhulika
M
Kabra
D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked; D005819:Genetic Markers; D005820:Genetic Testing; D006801:Humans; D007194:India; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012162:Retinal Degeneration; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000235:genetics
D005136:Eye Proteins; D005819:Genetic Markers; C081848:NDP protein, human; D009419:Nerve Tissue Proteins