Title | A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Wang, F, Li, H, Xu, M, Li, H, Zhao, L, Yang, L, Zaneveld, JE, Wang, K, Li, Y, Sui, R, Chen, R |
Journal | Invest Ophthalmol Vis Sci |
Volume | 56 |
Issue | 1 |
Pagination | 150-5 |
Date Published | 2014 Dec 04 |
ISSN | 1552-5783 |
Keywords | Adult, Basic Helix-Loop-Helix Transcription Factors, DNA, DNA Mutational Analysis, Female, Genes, Recessive, Homozygote, Humans, Male, Mutation, Missense, Pedigree, Phenotype, Retinitis Pigmentosa |
Abstract | PURPOSE: Mutations in the same gene can lead to different clinical phenotypes. In this study, we aim to identify novel genotype-phenotype correlations and novel disease genes by analyzing an unsolved autosomal recessive retinitis pigmentosa (ARRP) Han Chinese family.METHODS: Whole exome sequencing was performed for one proband from the consanguineous ARRP family. Stringent variants filtering and prioritizations were applied to identify the causative mutation.RESULTS: A homozygous missense variant, c.724G>A; p.V242I, in NEUROD1 was identified as the most likely cause of disease. This allele perfectly segregates in the family and affects an amino acid, which is highly conserved among mammals. A previous study showed that a homozygous null allele in NEUROD1 causes severe syndromic disease with neonatal diabetes, systematic neurological abnormalities, and early-onset retinal dystrophy. Consistent with these results, our patients who are homozygous for a less severe missense allele presented only late-onset retinal degeneration without any syndromic symptoms.CONCLUSIONS: We identified a potential novel genotype-phenotype correlation between NEUROD1 and nonsyndromic ARRP. Our study supports the idea that NEUROD1 is important for maintenance of the retina function and partial loss-of-function mutation in NEUROD1 is likely a rare cause of nonsyndromic ARRP. |
DOI | 10.1167/iovs.14-15382 |
Alternate Journal | Invest Ophthalmol Vis Sci |
PubMed ID | 25477324 |
PubMed Central ID | PMC4290556 |
Grant List | BR-GE-0613-0618-BCM / BC / NCI NIH HHS / United States U54 HD083092 / HD / NICHD NIH HHS / United States R01EY018571 / EY / NEI NIH HHS / United States S10 RR026550 / RR / NCRR NIH HHS / United States R01 EY022356 / EY / NEI NIH HHS / United States R01 EY018571 / EY / NEI NIH HHS / United States R01EY022356 / EY / NEI NIH HHS / United States |
A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
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