Deletions of VCX‐A and NLGN4: a variable phenotype including normal intellect

Macarov, Michal; Zeigler, Marsha; Newman, J. P.; Strich, David; Sury, Vivy; Tennenbaum, A.; Meiner, Vardiella

doi:10.1111/j.1365-2788.2006.00880.x

Cited by 66 publications

(50 citation statements)

References 16 publications

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“…This is further supported by the finding of point mutations in NLGN4X in related males with X-linked mental retardation and autism (Laumonnier et al, 2004) and in siblings with autism (Jamain et al, 2003). However, one family with a deletion of STS, VCXA and NLGN4 showed variable phenotype amongst the three affected males (Macarov et al, 2007).…”

Section: Introductionmentioning

confidence: 63%

“…As in previous studies (Aviram-Goldring et al, 2000;Cuevas-Covarrubias and Gonzalez-Huerta, 2008;Kent et al, 2008), we confirmed that the presence of marker DXS996 in patients with STS deficiency is predictive of normal development. In contrast, in the literature, a number, though not all, of patients who are deleted for DXS996 have been reported to present with developmental delay and some meet the diagnostic criteria for autism spectrum disorder (Macarov et al, 2007;Kent et al, 2008). This provides support for including DXS996, or other markers that map at the NLGN4 locus, in the panel of markers to be typed in any prenatal case found to have an STS deletion.…”

Section: Molecular Analysismentioning

confidence: 99%

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Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

et al. 2009

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ObjectiveTo ascertain all prenatally diagnosed cases of Steroid Sulfatase (STS) deficiency in British Columbia between August 2002 and July 2007 to determine the incidence of this condition, the clinical and laboratory findings, and the risk of a contiguous gene deletion syndrome.MethodsWe reviewed the medical records of these patients to obtain detailed information about the maternal serum screening results, family history, investigations performed, and outcome of the pregnancy.ResultsThirty pregnant patients were found to have a male fetus/infant with STS deficiency, giving a minimal estimated incidence of this condition of approximately 1 in 1513 males. In twenty nine cases, this condition was isolated. One patient was found to have a contiguous gene deletion syndrome. In cases of sporadic STS deficiency diagnosed prenatally, the frequency of contiguous gene deletion syndrome in this study was 1 out of 12 (8.3%).ConclusionThe clinical, cytogenetic and molecular data on this series of prenatally diagnosed cases of STS deficiency indicates that this is a common condition and in cases with no family history, the risk of contiguous gene deletion syndrome is significant, and warrants additional molecular genetic investigations of the mother and/or fetus. Copyright © 2009 John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 63%

Section: Molecular Analysismentioning

confidence: 99%

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

et al. 2009

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“…This would result in various different clinical manifestations that might be quite atypical, but jointly might also be able to cause autism-like features, which is supported by reports on Xp22.3 deletions, in which patients show the variable association of apparently unrelated clinical manifestations. 37,38 Jointly, the multiple genes with their resulting clinical phenotypes could increase the probability of developing autism. Additional support for autism as a partly contiguous gene syndrome, and the probable existence of different subtypes, comes from CNV studies identifying rare variants covering multiple genes of different function in the etiology of autism.…”

Section: Discussionmentioning

confidence: 99%

Systematic genotype–phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism

et al. 2009

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Many genetic studies in autism have been performed, resulting in the identification of multiple linkage regions and cytogenetic aberrations, but little unequivocal evidence for the involvement of specific genes exists. By identifying novel symptoms in these patients, enhanced phenotyping of autistic individuals not only improves understanding and diagnosis but also helps to define biologically more homogeneous groups of patients, improving the potential to detect causative genes. Supported by recent copy number variation findings in autism, we hypothesized that for some susceptibility loci, autism resembles a contiguous gene syndrome, caused by aberrations within multiple (contiguous) genes, which jointly increases autism susceptibility. This would result in various different clinical manifestations that might be rather atypical, but that also co-occur with autism. To test this hypothesis, 13 susceptibility loci, identified through genetic linkage and cytogenetic analyses, were systematically analyzed. The Online Mendelian Inheritance in Man database was used to identify syndromes caused by mutations in the genes residing in each of these loci. Subsequent analysis of the symptoms expressed within these disorders allowed us to identify 33 symptoms (significantly more than expected, P¼0.037) that were over-represented in previous reports mapping to these loci. Some of these symptoms, including seizures and craniofacial abnormalities, support our hypothesis as they are already known to co-occur with autism. These symptoms, together with ones that have not previously been described to co-occur with autism, might be considered for use as inclusion or exclusion criteria toward defining etiologically more homogeneous groups for molecular genetic studies of autism

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“…Multiple genetic changes in Nrxn [84][85][86][87][88][89][90][91][92][93][94] and Nlgn genes [92,93,[95][96][97][98][99][100][101][102][103][104][105][106][107][108][109][110] have been found in ASD patients. These changes include (i) point mutations, which cause frame shifts, small deletions, and missense mutations in both coding and promoter regions, (ii) distinct translocation events, and (iii) large-scale deletions of chromosomal DNA containing these gene loci.…”

Section: Neurexins and Neuroliginsmentioning

confidence: 99%

The complex genetics in autism spectrum disorders

Hua

Wei

Zhang

2015

Sci. China Life Sci.

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Autism spectrum disorders (ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Genetic changes/heritability is one of the major contributing factors, and hundreds to thousands of causative and susceptible genes, copy number variants (CNVs), linkage regions, and microRNAs have been associated with ASD which clearly indicates that ASD is a complex genetic disorder. Here, we will briefly summarize some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis.autism spectrum disorders, genetics, causative genes, copy number variants Citation:Hua R, Wei MP, Zhang C. The complex genetics in autism spectrum disorders. Sci China Life Sci, 2015, 58: 933 -945,

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Deletions of VCX‐A and NLGN4: a variable phenotype including normal intellect

Abstract: These findings suggest that deletion of VCX-A and NLGN4 can result in variable phenotypic features and that normal mental development can be achieved despite this deletion, emphasizing the importance of environmental factors and possible modifier genes.

Cited by 66 publications

References 16 publications

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

Systematic genotype–phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism

The complex genetics in autism spectrum disorders

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