Kabuki syndrome and sex chromosomal anomalies: is it really an association?

Bianca, Sebastiano; Barrano, Barbara; Cataliotti, Antonella; Indaco, Lara; Ingegnosi, Carmela; Ettore, Giuseppe

doi:10.1016/j.fertnstert.2008.12.112

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…X‐linked inheritance has also been implicated in KS. Sex chromosome abnormalities in KS have been reported many times and some of the clinical manifestations are shared with Turner syndrome; patients showing overlapping features, called “Turner–Kabuki” syndrome, have been reported [Bianca et al, ; Dennis et al, ; Niikawa et al, ; Rodriguez et al, ; Stankiewicz et al, ; Wellesley and Slaney, ]. Common structural abnormalities (inversion, translocation, and ring chromosome) involving Xp11 and Yp11 in the pseudoautosomal region were observed in KS, implying the potential involvement of the regions for pathogenesis in KS [Matsumoto and Niikawa, ].…”

Section: Clinical Features Of Patients With a Kdm6a Mutationmentioning

confidence: 99%

KDM6A Point Mutations Cause Kabuki Syndrome

et al. 2012

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Kabuki syndrome (KS) is a rare congenital anomaly syndrome characterized by a unique facial appearance, growth retardation, skeletal abnormalities, and intellectual disability. In 2010, MLL2 was identified as a causative gene. On the basis of published reports, 55-80% of KS cases can be explained by MLL2 abnormalities. Recently, de novo deletion of KDM6A has been reported in three KS patients, but point mutations of KDM6A have never been found. In this study, we investigated KDM6A in 32 KS patients without an MLL2 mutation. We identified two nonsense mutations and one 3-bp deletion of KDM6A in three KS cases. This is the first report of KDM6A point mutations associated with KS.

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Section: Clinical Features Of Patients With a Kdm6a Mutationmentioning

confidence: 99%

KDM6A Point Mutations Cause Kabuki Syndrome

et al. 2012

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“…Their findings led them to conclude that their case presented evidence for the association between KS and mosaicism for a high level of 45X and a low level of 47,XXX, and thus added mosaic 45,X/47,XXX to the list of cytogenetic abnormalities associated with KS. However, in light of their conclusions, Bianca et al 17 carried out a review of data from 8 KS patients, 32 TS and cases with 16 other sex chromosomal abnormalities, including 47,XXX; 47,XXY and 47,XYY. Their findings suggested there to be 'no association' between the two conditions, but did agree that further evaluations into the insights of overlapping phenotypes and co expression of both syndromes, could enable identification of the molecular basis and therefore cause of KS.…”

Section: Early Researchmentioning

confidence: 99%

Kabuki syndrome revisited

Bokinni

2012

J Hum Genet

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Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32 000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered, with no definitive conclusions about its etiology having ever been established. Recently, mutations within the MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals, but also because of pre-existing information in the literature having validated mutant MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity, and further still, present with more complex inter genomic interactions than initially proposed.

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Identifying novel disease genes and revealing the pathomechanism of monogenic diseases

Miyake

2024

Pediatrics International

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Diseases are caused by genetic and/or environmental factors. It is important to understand the pathomechanism of monogenic diseases that are caused only by genetic factors, especially prenatal‐ or childhood‐onset diseases for pediatricians. Identifying “novel” disease genes and elucidating how genomic changes lead to human phenotypes would develop new therapeutic approaches for rare diseases for which no fundamental cure has yet been established. Genomic analysis has evolved along with the development of analytical techniques, from Sanger sequencing (first‐generation sequencing) to techniques such as comparative genomic hybridization, massive parallel short‐read sequencing (using a next‐generation sequencer or second‐generation sequencer) and long‐read sequencing (using a next‐next generation sequencer or third‐generation sequencer). I have been researching human genetics using conventional and new technologies, together with my mentors and numerous collaborators, and have identified genes responsible for more than 60 diseases. Here, an overview of genomic analyses of monogenic diseases that aims to identify novel disease genes, and several examples using different approaches depending on the disease characteristics are presented.

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Kabuki syndrome and sex chromosomal anomalies: is it really an association?

Cited by 3 publications

References 6 publications

KDM6A Point Mutations Cause Kabuki Syndrome

KDM6A Point Mutations Cause Kabuki Syndrome

Kabuki syndrome revisited

Identifying novel disease genes and revealing the pathomechanism of monogenic diseases

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