Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Schoumans, Jacqueline; Nordgren, Ann; Ruivenkamp, Claudia; Brøndum‐Nielsen, Karen; Teh, Bin Tean; Annerén, Göran; Holmberg, Eva; Nordenskjöld, Magnus; Anderlid, Britt Marie

doi:10.1038/sj.ejhg.5201309

Cited by 28 publications

(29 citation statements)

References 18 publications

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“…Their proband was referred for severe psychomotor delay and a phenotype recalling the Kabuki syndrome. It is puzzling that an association between Kabuki syndrome and 8p22p23.1 duplication had been reported [Milunsky and Huang, 2003] and immediately contradicted by several reports Engelen et al, 2005;Hoffman et al, 2005;Sanlaville et al, 2005;Schoumans et al, 2005;Turner et al, 2005]. In our Case 1, the first facial impression at the age of 18 years had been that of Kabuki syndrome, probably due to the long arched eyebrows.…”

Section: Chromosome 8p Genome Architecturecontrasting

confidence: 67%

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

et al. 2007

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We describe a new type of rearrangement consisting of the duplication of 8p23.1 and the triplication of 8p23.2 [dup trp(8p)] in two patients affected by mental retardation and minor facial dysmorphisms. Array-comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH), and genotyping of polymorphic loci allowed us to demonstrate that this rearrangement is mediated by the combined effects of two unrelated low-copy repeats (LCRs). The first set of LCRs consists of the two clusters of olfactory receptor genes (OR-REPs) lying at 8p23.1. The second type of LCRs consists of a 15-kb segmental duplication, lying in inverted orientation at 8p23.2 and enclosing a nonrepeated sequence of approximately 130 kb, named MYOM2-REP because of its proximity to the MYOM2 gene. The molecular characterization of a third case with a dicentric chromosome 8 demonstrated that the rearrangement had been generated by nonallelic homologous recombination between the two MYOM2-REPs. Based on our findings, we propose a model showing that a second recombination event at the level of the OR-REPs leads to the formation of the dup trp(8p) chromosome. This rearrangement can only arise during meiosis in heterozygous carriers of the polymorphic 8p23.1 inversion, whereas in subjects with noninverted chromosomes 8 or homozygous for the inversion only the dicentric chromosome can be formed. Our study demonstrates that nonallelic homologous recombination involving multiple LCRs can generate more complex rearrangements and cause a greater variety of genomic diseases.

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Section: Chromosome 8p Genome Architecturecontrasting

confidence: 67%

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

et al. 2007

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“…[16][17][18] Chromosomal aberration analysis by high resolution oligonucleotide array technologies in recent years, called molecular karyotyping, enable us to detect submicroscopic pathogenic copy number alterations which were undetectable by even BAC 5/17 array CGH. 19,20 Since not a few MCA/MR syndromes are due to chromosomal copy number aberration, we hypothesize that some sort of microdeletion/microduplication cause KS.…”

Section: Introductionmentioning

confidence: 99%

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

et al. 2009

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“…26 However, several follow-up studies using FISH or array CGH with clones covering 8p23.1p22, in a total of 112 patients with KS, could not confirm this duplication to be a common cause of KS. [27][28][29][30][31][32][33] This multitude of reported chromosomal aberrations in KS is recognised in the variability of clinical expression of KS and its overlap with other phenotypes.…”

mentioning

confidence: 99%

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Maas

Putte

Melotte

et al. 2007

Journal of Medical Genetics

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Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Cited by 28 publications

References 18 publications

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

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