This article mainly analyzed the NDP gene in a Chinese family with X-linked recessive Norrie disease. Norrie disease is an inherited disorder that leads to blindness at birth or soon after, hearing loss, and developmental delay. Mutations in the NDP gene on the X chromosome cause Norrie disease. It is inherited in an X-linked recessive pattern. They collected Clinical data of the proband and his family members and carried out Complete ophthalmic examinations on the proband. Genomic DNA was extracted from peripheral blood leukocytes of 35 family members. Molecular analysis of the NDP gene was performed by polymerase chain reaction and direct sequencing of all exons and flanking regions. Finally they discovered a hemizygous NDP missense mutation c.362G > A (p.Arg121Gln) in exon 3 was identified in the affected members, but not in any of the unaffected family individuals.
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