ArticleJournal of medical genetics2002
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 32 citations in OpenAlex.
- Sorting Out Sorting Nexins Functions in the Nervous System in Health and Disease.Molecular neurobiology · 2021Review
- The Molecular Basis of Human Anophthalmia and Microphthalmia.Journal of developmental biology · 2019Review
- Insights into the evolution of longevity from the bowhead whale genome.Cell reports · 2015Article
- Association of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving theTranslational neuroscience · 2015Review
- Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome.American journal of medical genetics. Part A · 2014Article
- Snx14 regulates neuronal excitability, promotes synaptic transmission, and is imprinted in the brain of mice.PloS one · 2014Article
- Snx3 regulates recycling of the transferrin receptor and iron assimilation.Cell metabolism · 2013Article
- Functional characterization of tissue-specific enhancers in the DLX5/6 locus.Human molecular genetics · 2012Article
- Coding exons function as tissue-specific enhancers of nearby genes.Genome research · 2012Article
- Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Neurogenetics · 2012Article
- 4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.European journal of human genetics : EJHG · 2009Article
- Balanced translocations in mental retardation.Human genetics · 2009Review
- Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.Genomics · 2008Article
- Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.BMC medical genetics · 2007Article
- Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.Human genetics · 2007Article
- A de novo interstitial 6q deletion in a boy with a split hand malformation.Journal of applied genetics · 2007Article
- Ultra-high resolution array painting facilitates breakpoint sequencing.Journal of medical genetics · 2007Article
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A patient with microcephaly, microphthalmia, ectrodactyly, and prognathism (MMEP) and mental retardation was previously reported to carry a de novo reciprocal t(6;13)(q21;q12) translocation. In an attempt to identify the presumed causative gene, we mapped the translocation breakpoints using fluorescence in situ hybridisation (FISH). Two overlapping genomic clones crossed the breakpoint on the der(6) chromosome, locating the breakpoint region between D6S1594 and D6S1250. Southern blot analysis allowed us to determine that the sorting nexin 3 gene (SNX3) was disrupted. Using Inverse PCR, we were able to amplify and sequence the der(6) breakpoint region, which exhibited homology to a BAC clone that contained marker D13S250. This clone allowed us to amplify and sequence the der(13) breakpoint region and to determine that no additional rearrangement was present at either breakpoint, nor was another gene disrupted on chromosome 13. Therefore, the translocation was balanced and SNX3 is probably the candidate gene for MMEP in the patient. However, mutation screening by dHPLC and Southern blot analysis of another sporadic case with MMEP failed to detect any point mutations or deletions in the SNX3 coding sequence. Considering the possibility of positional effect, another candidate gene in the vicinity of the der(6) chromosome breakpoint may be responsible for MMEP in the original patient or, just as likely, the MMEP phenotype in the two patients results from genetic heterogeneity.
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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.