ArticleAmerican journal of human genetics2001
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 127 citations in OpenAlex.
- Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?BMC pregnancy and childbirth · 2024Article
- Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome.Movement disorders clinical practice · 2023Article
- Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center.The Journal of international medical research · 2020Article
- Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome.Disease models & mechanisms · 2020Review
- Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.Frontiers in genetics · 2018Article
- Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7.Clinical case reports · 2017Article
- Maintenance ofEnvironmental epigenetics · 2017Review
- Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nature reviews. Endocrinology · 2017Article
- Mosaic UPD(7q)mat in a patient with silver Russell syndrome.Molecular cytogenetics · 2017Article
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology.Molecular syndromology · 2016Review
- New developments in Silver-Russell syndrome and implications for clinical practice.Epigenomics · 2016Review
- The role and interaction of imprinted genes in human fetal growth.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2015Review
- Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.Epigenetics · 2014Article
- Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.PloS one · 2013Article
- First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.Iranian journal of pediatrics · 2012Article
- Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.American journal of medical genetics. Part A · 2010Article
- The importance of imprinting in the human placenta.PLoS genetics · 2010Review
- Silver-Russell syndrome: genetic basis and molecular genetic testing.Orphanet journal of rare diseases · 2010Review
- Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affected sib pairs maps a paternally imprinted locus to 7q34.European journal of human genetics : EJHG · 2010Article
- Genomic organization and control of the grb7 gene family.Current genomics · 2008Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in approximately 10% of patients with Silver-Russell syndrome (SRS). It has been suggested that at least one imprinted gene that regulates growth and development resides on human chromosome 7. To date, three imprinted genes-PEG1/MEST, gamma2-COP, and GRB10-have been identified on chromosome 7, but their role in the etiology of SRS remains uncertain. In a systematic screening with microsatellite markers, for matUPD7 cases among patients with SRS, we identified a patient who had a small segment of matUPD7 and biparental inheritance of the remainder of chromosome 7. Such a pattern may be explained by somatic recombination in the zygote. The matUPD7 segment at 7q31-qter extends for 35 Mb and includes the imprinted gene cluster of PEG1/MEST and gamma2-COP at 7q32. GRB10 at 7p11.2-p12 is located within a region of biparental inheritance. Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. Our findings delimit a candidate imprinted region sufficient to cause SRS.
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