ArticleNeurogenetics2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 53 citations in OpenAlex.
- The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.Annals of neurology · 2025Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 2024Review
- DHDDS and NUS1: A Converging Pathway and Common Phenotype.Movement disorders clinical practice · 2024Review
- Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach.European journal of pediatrics · 2023Review
- Case report: A newFrontiers in genetics · 2023Article
- Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.Intractable & rare diseases research · 2022Article
- Roles of A-kinase Anchor Protein 12 in Astrocyte and Oligodendrocyte Precursor Cell in Postnatal Corpus Callosum.Stem cell reviews and reports · 2021Article
- A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor.Epilepsy & behavior reports · 2021Article
- A Preliminary Study on the Safety of Elastography during Pregnancy: Hypoacusia, Anthropometry, and Apgar Score in Newborns.Diagnostics (Basel, Switzerland) · 2020Article
- 3-O-sulfated heparan sulfate interactors target synaptic adhesion molecules from neonatal mouse brain and inhibit neural activity and synaptogenesis in vitro.Scientific reports · 2020Article
- First Case Report of Prader-Willi-Like Syndrome in Colombia.Frontiers in genetics · 2018Article
- Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.Molecular syndromology · 2017Article
- Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.Clinical case reports · 2017Article
- Article
- From vestigial to vestigial-like: the Drosophila gene that has taken wing.Development genes and evolution · 2016Review
- Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.American journal of human genetics · 2016Article
- Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.Acta medica Lituanic · 2016Article
- Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.European journal of human genetics : EJHG · 2015Article
- 6q22.1 microdeletion and susceptibility to pediatric epilepsy.European journal of human genetics : EJHG · 2015Article
- 6q21-22 deletion syndrome with interrupted aortic arch.Human genome variation · 2015Article
Corrections and comments
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Authors and funding
28 authors at 14 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Interstitial deletions of 6q are associated with variable phenotypes, including growth retardation, dysmorphic features, upper limb malformations, and Prader-Willi (PW)-like features. Only a minority of cases in the literature have been characterized with high resolution techniques, making genotype-phenotype correlations difficult. We report 12 individuals with overlapping, 200-kb to 16.4-Mb interstitial deletions within 6q15q22.33 characterized by microarray-based comparative genomic hybridization to better correlate deletion regions with specific phenotypes. Four individuals have a PW-like phenotype, though only two have deletion of SIM1, the candidate gene for this feature. Therefore, other genes on 6q may contribute to this phenotype including multiple genes on 6q16 and our newly proposed candidate, the transcription cofactor gene VGLL2 on 6q22.2. Two individuals present with movement disorders as a major feature, and ataxia is present in a third. The 4.1-Mb 6q22.1q22.2 critical region for movement disorders includes the cerebellar-expressed candidate gene GOPC. Observed brain malformations include thick corpus callosum in two subjects, cerebellar vermal hypoplasia in two subjects, and cerebellar atrophy in one subject. Seven subjects' deletions overlap a ~250-kb cluster of four genes on 6q22.1 including MARCKS, HDAC2, and HS3ST5, which are involved in neural development. Two subjects have only this gene cluster deleted, and one deletion was apparently de novo, suggesting at least one of these genes plays an important role in development. Although the phenotypes associated with 6q deletions can vary, using overlapping deletions to delineate critical regions improves genotype-phenotype correlation for interstitial 6q deletions.
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