ArticleGenetics in medicine : official journal of the American College of Medical Genetics2005
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- Automated prediction of the clinical impact of structural copy number variations.Scientific reports · 2022Article
- Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development.Annals of rehabilitation medicine · 2019Article
- 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.American journal of human genetics · 2019Article
- Copy number variation (CNV) in theArchives animal breeding · 2019Article
- The distribution and impact of common copy-number variation in the genome of the domesticated apple, Malus x domestica Borkh.BMC genomics · 2015Article
- Non-coding genetic variants in human disease.Human molecular genetics · 2015Review
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- Assessing structural variation in a personal genome-towards a human reference diploid genome.BMC genomics · 2015Article
- TBX6 null variants and a common hypomorphic allele in congenital scoliosis.The New England journal of medicine · 2015Article
- Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.Molecular syndromology · 2013Article
- Generation of the Sotos syndrome deletion in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Article
- Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.Human mutation · 2012Article
- Article
- Molecular mechanisms in 22q11 deletion syndrome.Schizophrenia bulletin · 2011Review
- Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome.The Journal of allergy and clinical immunology · 2011Article
- Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Current genomics · 2011Article
- Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.American journal of human genetics · 2010Article
- Detection of clinically relevant exonic copy-number changes by array CGH.Human mutation · 2010Article
- Phenotypic variability and genetic susceptibility to genomic disorders.Human molecular genetics · 2010Review
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
purposeWe tested the hypothesis that Sotos syndrome (SoS) due to the common deletion is a contiguous gene syndrome incorporating plasma coagulation factor twelve (FXII) deficiency. The relationship between FXII activity and the genotype at a functional polymorphism of the FXII gene was investigated.
methodsA total of 21 patients including those with the common deletion, smaller deletions, and point mutations, and four control individuals were analyzed. We examined FXII activity in patients and controls, and analyzed their FXII 46C/T genotype using direct DNA sequencing.
resultsAmong 10 common deletion patients, seven patients had lower FXII activity with the 46T allele of the FXII gene, whereas three patients had normal FXII activity with the 46C allele. Two patients with smaller deletions, whose FXII gene is not deleted had low FXII activity, but one patient with a smaller deletion had normal FXII. Four point mutation patients and controls all had FXII activities within the normal range.
conclusionFXII activity in SoS patients with the common deletion is predominantly determined by the functional polymorphism of the remaining hemizygous FXII allele. Thus, Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.
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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.