[Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].

OBJECTIVE

To explore the genetic etiology of a pedigree affected with Norrie disease.

METHODS

Four individuals from the core family of the proband were subjected to whole exome sequencing in order to identify the pathological variant. Sanger sequencing was used to verify the finding among 7 additional members from the pedigree.

RESULTS

The proband and other 3 male patients have all carried a hemizygote c.361C>T (p.Arg121Trp) missense variant of the NDP gene, for which his mother, grandmother and two younger female cousins were heterozygous carriers. The same variant was not detected among unaffected males. Above results conformed to a X-linked recessive pattern of inheritance.

CONCLUSION

The missense variant c.361C>T of the NDP gene probably underlies the Norrie disease in this pedigree.