Cochlear Implantation in a Patient with Kabuki Syndrome

Vesseur, Annemarie; Cillessen, Eva; Mylanus, E.A.M.

doi:10.5152/iao.2016.2004

Cited by 2 publications

(3 citation statements)

References 7 publications

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“…Intense acoustic stimulation leads to this reflex, and lesions or traumas in this pathway are reflected as a reduced response to stimulus, suggesting hearing impairment. Hearing loss is one of the neurosensory abnormalities of KS observed over 30% of the patients …”

Section: Discussionmentioning

confidence: 99%

“…Hearing loss is one of the neurosensory abnormalities of KS observed over 30% of the patients. [48][49][50] As for the psychomotor system aspect, surface righting reflex impairment and hindquarter fall was observed in the bapa mutant, which potentially presupposes the presence of hypotonia in these animals. Hypotonia is often noticed from birth in patients with KS, affecting approximately 70% of patients, 48,51 and this clinical feature could be linked to the presence of a KMT2D mutation.…”

Section: Bjornsson Et Almentioning

confidence: 99%

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Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome

Yamamoto

Souza

Antiorio

et al. 2019

Genes Brain and Behavior

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The recessive mutant mice bate palmas (bapa) ‐ claps in Portuguese arose from N‐ethyl‐N‐nitrosourea mutagenesis. A single nucleotide, T > C, change in exon 13, leading to a Thr1289Ala substitution, was identified in the lysine (K)‐specific methyltransferase 2D gene (Kmt2d) located on chromosome 15. Mutations with a loss‐of‐function in the KMT2D gene on chromosome 12 in humans are responsible for Kabuki syndrome (KS). Phenotypic characterization of the bapa mutant was performed using a behavioral test battery to evaluate the parameters related to general activity, the sensory nervous system, the psychomotor system, and the autonomous nervous system, as well as to measure motor function and spatial memory. Relative to BALB/cJ mice, the bapa mutant showed sensory and psychomotor impairments, such as hypotonia denoted by a surface righting reflex impairment and hindquarter fall, and a reduction in the auricular reflex, suggesting hearing impairment. Additionally, the enhanced general activity showed by the increased rearing and grooming frequency, distance traveled and average speed possibly presupposes the presence of hyperactivity of bapa mice compared with the control group. A slight motor coordination dysfunction was showed in bapa mice, which had a longer crossing time on the balance beam compared with BALB/cJ controls. Male bapa mice also showed spatial gait pattern changes, such as a shorter stride length and shorter step length. In conclusion, the bapa mouse may be a valuable animal model to study the mechanisms involved in psychomotor and behavior impairments, such as hypotonia, fine motor coordination and hyperactivity linked to the Kmt2d mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Bjornsson Et Almentioning

confidence: 99%

Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome

Yamamoto

Souza

Antiorio

et al. 2019

Genes Brain and Behavior

View full text Add to dashboard Cite

show abstract

“…Identification of anatomic inner ear abnormalities may have implications for treatment of the hearing loss. For example, one case study demonstrated the efficacy of cochlear implantation in a patient with Kabuki syndrome and semicircular canal malformation (A. Vesseur et al, 2016a). et al, 2018).…”

Section: The Infant's Ultimate Diagnosis Of An Allelic Disorder Cause...mentioning

confidence: 99%

Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder

Stadelmaier

Kenna

Barrett

et al. 2021

American J of Med Genetics Pt A

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Recognition of distinct phenotypic features is an important component of genetic diagnosis. Although CHARGE syndrome, Kabuki syndrome, and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions and guide genetic testing and variant interpretation. We present an infant clinically diagnosed with CHARGE syndrome but subsequently found to have a de novo missense variant in exon 38 of KMT2D, the gene implicated in both Kabuki syndrome and a distinct KMT2D allelic disorder.We compare her brain and inner ear morphology to a retrospective cohort of 21 patients with classic Kabuki syndrome and to typical CHARGE syndrome findings described in the literature. Thirteen of the 21 Kabuki syndrome patients had temporal bone imaging (5/13 CT, 12/13 MRI) and/or brain MRI (12/13) which revealed findings distinct from both CHARGE syndrome and the KMT2D allelic disorder. Our findings further elucidate the spectrum of inner ear dysmorphology distinguishing Kabuki syndrome and the KMT2D allelic disorder from CHARGE syndrome, suggesting that these three disorders may be differentiated at least in part by their inner ear anomalies.

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Cochlear Implantation in a Patient with Kabuki Syndrome

Cited by 2 publications

References 7 publications

Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome

Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome

Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder

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