ArticleEuropean journal of human genetics : EJHG2015
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 67 citations in OpenAlex.
- NovelInternational journal of molecular sciences · 2026Article
- A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.Current obesity reports · 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
- Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study.Neurology. Genetics · 2022Article
- Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.European journal of human genetics : EJHG · 2022Article
- Article
- Neuroprotective Effects of Testosterone in the Hypothalamus of an Animal Model of Metabolic Syndrome.International journal of molecular sciences · 2021Article
- ThePlant physiology · 2020Article
- Injury to hypothalamic Sim1 neurons is a common feature of obesity by exposure to high-fat diet in male and female mice.Journal of neurochemistry · 2019Article
- Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.Molecular cytogenetics · 2018Article
- First Case Report of Prader-Willi-Like Syndrome in Colombia.Frontiers in genetics · 2018Article
- Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics.Diseases (Basel, Switzerland) · 2016Article
- Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?Molecular cytogenetics · 2016Article
- 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.Molecular cytogenetics · 2015Article
- [The genetics of obesity - pathogenetic, clinical and diagnostic aspects].Developmental period medicineArticle
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37 authors at 15 institutions in 3 countries.
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Abstract
6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including the first patient with fetopathological data. This fetus showed dysmorphic facial features, cerebellar and cerebral migration defects with neuronal heterotopias, and fusion of brain nuclei. The size of the deletion in the 14 living patients ranged from 1.73 to 7.84 Mb, and the fetus had the largest deletion (14 Mb). Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype. Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency. This study in the largest series reported to date confirms that the PWS-like phenotype is strongly linked to 6q16.2q16.3 deletions and varies considerably in its clinical expression. The possible involvement of other genes in the 6q16.2q16.3-deletion phenotype is discussed.
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