ArticleAmerican journal of human genetics2013
Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 41 citations in OpenAlex.
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- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
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- Temtamy syndrome caused by a newExperimental and therapeutic medicine · 2020Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- The Molecular Basis of Human Anophthalmia and Microphthalmia.Journal of developmental biology · 2019Review
- Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.Scientific reports · 2018Article
- A review of structural brain abnormalities in Pallister-Killian syndrome.Molecular genetics & genomic medicine · 2018Review
- Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Molecular psychiatry · 2017Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Genetic Advances in Microphthalmia.Journal of pediatric genetics · 2016Review
- High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.Human genetics · 2015Article
- EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.Birth defects research. Part A, Clinical and molecular teratology · 2015Article
- Genomic variants and variations in malformations of cortical development.Pediatric clinics of North America · 2015Review
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
- Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.PLoS genetics · 2015Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microphthalmia is an important developmental eye disorder. Although mutations in several genes have been linked to this condition, they only account for a minority of cases. We performed autozygome analysis and exome sequencing on a multiplex consanguineous family in which colobomatous microphthalmia is associated with profound global developmental delay, intractable seizures, and corpus callosum abnormalities, and we identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?]. In a simplex case with a similar phenotype, we identified compound heterozygosity for the same mutation and another missense mutation [c.152T>A; p.Leu51Gln]. Little is known about C12orf57 but we show that it is expressed in several mouse tissues, including the eye and brain. Our data strongly implicate mutations in C12orf57 in the pathogenesis of a clinically distinct autosomal-recessive syndromic form of colobomatous microphthalmia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.