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Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 25-27, 2020.
Article in Chinese | WPRIM | ID: wpr-781302
ABSTRACT
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Retinal Degeneration / Spasms, Infantile / Blindness / Genetic Diseases, X-Linked / Eye Proteins / Genetics / Nerve Tissue Proteins / Nervous System Diseases Type of study: Prognostic study Limits: Female / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Retinal Degeneration / Spasms, Infantile / Blindness / Genetic Diseases, X-Linked / Eye Proteins / Genetics / Nerve Tissue Proteins / Nervous System Diseases Type of study: Prognostic study Limits: Female / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2020 Type: Article