Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Mol Genet Genomic Med
; 12(1): e2345, 2024 Jan.
Article
em En
| MEDLINE
| ID: mdl-38146894
ABSTRACT
PURPOSE:
Norrie disease (ND) is a rare X-linked recessive disorder characteristic of early childhood blindness. While several mutations in the NDP gene have been reported as causative for ND, the genetic etiology remains unknown for many patients. This study aims to describe a novel mutation and explore the clinical manifestations in a Chinese family with two affected males.METHODS:
Exome sequencing (ES) was employed to identify the causative gene in a four-generation pedigree. Sanger sequencing was subsequently utilized to validate the mutation detected by ES in additional family members. Ophthalmologic examination and diagnostic imaging relevant to ND were conducted.RESULTS:
The proband (IV2), an 8-month-old male infant, presented with binocular retinal detachment. DNA sequencing revealed a novel heterozygous missense mutation (c.174G>C) within the NDP gene in the proband. This mutation affected highly conserved residues and was predicted to disrupt the normal protein structure. Furthermore, the variant co-segregated with the disease phenotypes within the family.CONCLUSIONS:
Our findings identified a novel missense mutation in the NDP gene associated with Norrie disease in China, expanding the mutation spectrum associated with ND. This discovery holds diagnostic, prognostic, and genetic counseling implications for affected individuals.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
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Espasmos Infantis
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Doenças Genéticas Ligadas ao Cromossomo X
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Doenças do Sistema Nervoso
Limite:
Child, preschool
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Humans
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Infant
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China