Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

Sanlaville, Damien; Geneviève, David; Bernardin, Céline; Amiel, Jeanne; Baumann, Clarisse; Blois, Marie‐Christine de; Cormier‐Daire, Valérie; Gérard, Bénédicte; Gérard, Marion; Merrer, Martine Le; Parent, Philippe; Prieur, Fabienne; Prieur, M; Raoul, O; Toutain, Annick; Verloes, Alain; Viot, Géraldine; Romana, Serge; Münnich, Arnold; Lyonnet, Stanislas; Vekemans, Michel; Turleau, C

doi:10.1038/sj.ejhg.5201383

Cited by 28 publications

(22 citation statements)

References 19 publications

(16 reference statements)

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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: 73%

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: 73%

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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“…37,38 Arhinencephaly or hypoplastic olfactory bulbs, with or without other defects, is the most common defect. 39 It was observed by MRI scan in 18/18 patients. 38 Anosmia has recently be found to be a common anomaly, 40 in relation with abnormal olfactory bulbs.…”

Section: Choanal Atresia and Other Ent Anomaliesmentioning

confidence: 95%

CHARGE syndrome: an update

2007

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In association with CHARGE syndrome: an update CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (ColobomaChoanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome.

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“…[3][4][5][6][7] Some works have ruled out several loci, e.g., 1q32-q41, 8p22-p23.1 and 22q11, from the candidate for KS. [8][9][10][11][12][13] A study of array-based comparative genomic hybridization (CGH) showed a disruption of C20orf133(MACROD2) gene by ~250 kb deletion on a patient with KS 14 , but the following mutation screening for the gene failed to find pathogenic base change within exons in other 19 patients with KS 14 and in 43 Japanese patients. 15 Another study of array CGH with 0.5 -1.2 Mb resolution reported that 2q37 deletions were detected in two patients with Kabuki-like features but their facial feature were not typical for 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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Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

Cited by 28 publications

References 19 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

CHARGE syndrome: an update

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

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