ArticleEuropean journal of human genetics : EJHG2012
Discovery of variants unmasked by hemizygous deletions.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Review
- Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype.Molecular genetics & genomic medicine · 2025Article
- Homozygous Intragenic Deletion inMolecular syndromology · 2025Article
- Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.European journal of endocrinology · 2020Article
- The role of rare compound heterozygous events in autism spectrum disorder.Translational psychiatry · 2020Article
- Syndromes Hidden within the 16p11.2 Deletion Region.Molecular syndromology · 2018Article
- Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.European journal of human genetics : EJHG · 2018Article
- Adding Insult to Injury, Complexity to Intricacy.Molecular syndromology · 2017Article
- When Recessive Genes Mutate to Dominant Gene Action.Molecular syndromology · 2016Article
- Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients.Meta gene · 2016Article
- A catalog of hemizygous variation in 127 22q11 deletion patients.Human genome variation · 2016Article
- Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.American journal of medical genetics. Part A · 2015Article
- Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.Molecular syndromology · 2015Review
- The clustering of functionally related genes contributes to CNV-mediated disease.Genome research · 2015Article
- Late breaking chromosomes.Molecular syndromology · 2014Article
- Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.European journal of human genetics : EJHG · 2014Article
- Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Molecular cytogenetics · 2014Article
- Beware of Hemizygous Deletions That May Unmask Deleterious Variants.Molecular syndromology · 2012Article
- 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.Genetics and molecular biologyArticle
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted as potentially pathogenic. However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mutated second allele inherited from the other healthy parent. To detect such events, we performed multiplex enrichment and next-generation sequencing of the entire coding sequence of all genes within unique hemizygous deletion regions in 20 patients (1.53 Mb capture footprint). Out of the detected 703 non-synonymous single-nucleotide variants (SNVs), 8 represented variants being unmasked by a hemizygous deletion. Although evaluation of inheritance patterns, Grantham matrix scores, evolutionary conservation and bioinformatic predictions did not consistently indicate pathogenicity of these variants, no definitive conclusions can be drawn without functional validation. However, in one patient with severe mental retardation, lack of speech, microcephaly, cheilognathopalatoschisis and bilateral hearing loss, we discovered a second smaller deletion, inherited from the other healthy parent, resulting in loss of both alleles of the highly conserved heat shock factor binding protein 1 (HSBP1) gene. Conceivably, inherited deletions may unmask rare pathogenic variants that may exert a phenotypic impact through a recessive mode of gene action.
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