2008
DOI: 10.1002/humu.20778
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Long interspersed nuclear element-1 (LINE1)-mediated deletion ofEVC,EVC2,C4orf6, andSTK32B in Ellis–van Creveld syndrome with borderline intelligence

Abstract: Previous work has shown Ellis-van Creveld (EvC) patients with mutations either in both alleles of EVC or in both alleles of EVC2. We now report affected individuals with the two genes inactivated on each allele. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, we detected a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 or L1) elements. Patients homozygous for the deletion are deficient… Show more

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Cited by 57 publications
(45 citation statements)
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“…34 . Rare and novel autosomal recessive disorders have been widely reported from communities with high consanguinity rates [35][36][37][38][39][40][41][42] , since the main impact of consanguinity is the increased expression of rare autosomal recessive genetic disorders.…”
Section: Health Impact Of Consanguinitymentioning
confidence: 99%
“…34 . Rare and novel autosomal recessive disorders have been widely reported from communities with high consanguinity rates [35][36][37][38][39][40][41][42] , since the main impact of consanguinity is the increased expression of rare autosomal recessive genetic disorders.…”
Section: Health Impact Of Consanguinitymentioning
confidence: 99%
“…Similar to the Alu elements, L1s may have been a source of recombination-associated genomic deletion throughout human evolution because of their high copy numbers and relatively long stretches of sequence identity. Surprisingly, only three L1 recombination-associated deletion (L1RAD) events causing human diseases (i.e., glycogen storage disease, Alport Syndrome-Diffuse Leiomyomatosis, and Ellis-van Creveld syndrome) have been reported (15)(16)(17). However, there have been no previous systematic studies of the genome-wide impact of this process in the human lineage.…”
mentioning
confidence: 95%
“…[9][10][11][12] Only three human diseasesglycogen storage disease type IXb, Alport syndrome-diffuse leiomyomatosis, and Ellis-van Creveld syndrome -have been reported to be caused by L1-mediated NAHR. [13][14][15] To our knowledge, this is the fourth NAHR event to cause human disease, in this case Perlman syndrome. Several possible explanations for the rareness of L1-mediated NAHR have been posed: (1) L1s locate in gene-poor regions, such that recombination events are clinically silent; (2) frequent and extensive mutations over evolutionary time have limited the homology among elements; (3) L1s occur at longer intervals, rendering recombinations involving collinear elements unlikely.…”
Section: Discussionmentioning
confidence: 91%