De novo exonic deletion of <i>KDM6A</i> in a Chinese girl with Kabuki syndrome: A case report and brief literature review

Yang, Pu; Hu, Ting; Xia, Yan; Yu, Qian; Wei, Xiaojun; Guo, Ruolan; Peng, Ying; Chen, Chen; Li, Haoxian; Mei, Lingyun; Huang, Yanru

doi:10.1002/ajmg.a.37634

Cited by 20 publications

(14 citation statements)

References 33 publications

(46 reference statements)

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“…On the other hand, in the CPRS-L questionnaire more than half of our participants obtained borderline or clinical scores in scales exploring the presence of attentional deficits. Mild attention deficit and/or hyperactivity in KS were also reported in previous studies (Banka et al, 2015;Lederer et al, 2012;Lindgren et al, 2013;Mervis et al, 2005;Wessels et al, 2002;Yang et al, 2016) and these features are deserving of depth future investigation.…”

Section: Discussionsupporting

confidence: 74%

“…Following the identification of the two disease genes underlying the disorder, first attempts to explore possible genotype-phenotype correlations have been carried out (Banka et al, 2015;Lederer et al, 2012;Lindgren et al, 2013;Morgan et al, 2015;Yang et al, 2016). In subjects with inactivating KDM6A mutations and gene deletions, consistent cognitive impairment has been observed.…”

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confidence: 99%

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Neurobehavioral features in individuals with Kabuki syndrome

Caciolo

Alfieri

Piccini

et al. 2018

Molec Gen & Gen Med

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BackgroundKabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A.MethodsThe aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D. We also described performance of our cohort in any neuropsychological domain investigated.ResultsWe documented a marked variation in the neuropsychological profile of subjects with clinical diagnosis of KS, even though a relatively homogeneous impairment in linguistic domains and motor skills was observed. No significant difference occurred between mutation‐positive and mutation‐negative groups. Phonological disorders and oromotor dysfunctions were also found, and adaptive functioning was characterized by low performance in daily living and in motor domain.ConclusionThe present study allowed identification of a distinctive neurobehavioral profile in a cohort of individuals affected by KS with or without molecularly confirmed diagnosis. These findings are expected to help clinicians define more accurately targeted protocols for individualized intervention.

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Section: Discussionsupporting

confidence: 74%

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confidence: 99%

Neurobehavioral features in individuals with Kabuki syndrome

Caciolo

Alfieri

Piccini

et al. 2018

Molec Gen & Gen Med

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“…A long first toe was also seen in the patient reported by Yang et al. (), who had a 227‐kb deletion of chromosome X including exons 1 and 2 of KDM6A . Thus, a long great toe, initially described by Lederer et al.…”

Section: Methodssupporting

confidence: 63%

“…The former may, however, still develop with secondary dentition. A long first toe was also seen in the patient reported by Yang et al (2016), who had a 227-kb deletion of chromosome X including exons 1 and 2 of KDM6A. Thus, a long great toe, initially described by Lederer et al (2012), may be an indicator of a KDM6A exonic deletion.…”

Section: Clinical Relevancementioning

confidence: 80%

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

et al. 2016

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Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, whereas mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and nine were shown to be de novo. We give an up-to-date overview of all published mutations for the two KS genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well-defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.

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“…Although KS has been reported across all ethnicities only few individual case reports and small case series have been published on KS patients of Chinese descent (Chen, Sun, Hsia, Lai, & Wu, 2014;Guo, Liu, & Li, 2018;Liu et al, 2015;Lu, Mo, Ling, & Ji, 2016;Xin et al, 2018;Yang et al, 2016). Here we report our experience on 14 genetically confirmed patients with KS in addition to 11 patients whose information was retrieved from the medical literature.…”

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confidence: 99%

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

Wang

Niu

et al. 2019

American J of Med Genetics Pt A

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Kabuki syndrome (KS) is a rare disorder of transcriptional regulation with a complex phenotype that includes cranio‐facial dysmorphism, intellectual disability, hypotonia, failure to thrive, short stature, and cardiac and renal anomalies. Heterozygous, de novo dominant mutations in either KMT2D or KDM6A underlie KS. Limited information is available about the phenotypic spectrum of KS in China. Fourteen Chinese patients with genetically confirmed KS were evaluated in addition to 11 Chinese patients who were identified from the medical literature. The clinical phenotype spectrum of these patients was compared to that of 449 patients with KS from non‐Chinese ethnicities. Additionally, we explored the utility of a facial recognition software in recognizing KS. All 25 patients with KS carried de novo, likely pathogenic or pathogenic variants in either KMT2D or KDM6A. Eighteen patients were male, the age at diagnosis ranged from 2months to 11.6 years. The facial gestalt included arched and broad eyebrows (25/25; 100%), sparse lateral or notched eyebrows (18/18; 100%), short columella with a concave nasal tip (24/25; 96%) and large, prominent ears (24/24; 100%) which were more frequent in Chinese patients (p < .01). In contrast, microcephaly (2/25; 8%), cleft lip/palate (2/25; 8%), and cardiac defects (10/25; 40%) were less frequent in Chinese patients (not significant). The diagnosis of KS was correctly identified in 13 of 14 patients through facial recognition and clinical phenotyping, underscoring the utility of this approach. As expected, there is marked phenotypic overlap between Chinese and non‐Chinese patients with KS, although subtle differences were identified.

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De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

Cited by 20 publications

References 33 publications

Neurobehavioral features in individuals with Kabuki syndrome

Neurobehavioral features in individuals with Kabuki syndrome

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

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