ArticleJournal of medical genetics2006
Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 51 citations in OpenAlex.
- Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders.Neurochemistry international · 2021Article
- Enhancers: bridging the gap between gene control and human disease.Human molecular genetics · 2018Review
- Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.Molecular genetics & genomic medicine · 2018Article
- Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.Balkan journal of medical genetics : BJMG · 2015Article
- Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007.European journal of medical genetics · 2014Article
- Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome.Korean journal of pediatrics · 2014Article
- The role of genetics in the establishment and maintenance of the epigenome.Cellular and molecular life sciences : CMLS · 2013Review
- CHARGE Association.Indian journal of endocrinology and metabolism · 2012Article
- Immunological aspects of 22q11.2 deletion syndrome.Cellular and molecular life sciences : CMLS · 2012Review
- Cranial neural crest cells on the move: their roles in craniofacial development.American journal of medical genetics. Part A · 2011Review
- Chromodomain proteins in development: lessons from CHARGE syndrome.Clinical genetics · 2010Review
- Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.American journal of medical genetics. Part A · 2010Review
- Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.Clinical and experimental immunology · 2008Article
- Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.American journal of human genetics · 2008Article
- Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.American journal of human genetics · 2008Article
- CHARGE syndrome.Orphanet journal of rare diseases · 2006Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCHARGE syndrome has an estimated prevalence of 1/10,000. Most cases are sporadic which led to hypotheses of a non-genetic aetiology. However, there was also evidence for a genetic cause with reports of multiplex families with presumed autosomal dominant, possible autosomal recessive inheritance and concordant twin pairs. We identified a monozygotic twin pair with CHARGE syndrome and a de novo balanced chromosome rearrangement t(8;13)(q11.2;q22).
methodsFluorescence in situ hybridisation was performed with BAC and PAC probes to characterise the translocation breakpoints. The breakpoint on chromosome 8 was further refined using 10 kb probes we designed and produced using sequence data for clone RP11 33I11, the Primer3 website, and a long range PCR kit.
resultsBAC and PAC probe hybridisation redefined the breakpoints to 8q12.2 and 13q31.1. Probe RP11 33I11 spanned the breakpoint on chromosome 8. Using our 10 kb probes we demonstrated that the chromodomain gene CHD7 was disrupted by the translocation between exons 3 and 8. DISCUSSION: Identifying that the translocation breakpoint in our patients occurred between exons 3 and 8 of CHD7 suggests that disruption of this gene is the cause of CHARGE syndrome in the twins and independently confirms the role of CHD7 in CHARGE syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.