Otopathology in Kleefstra Syndrome: A Case Report

Okayasu, Tadao; Quesnel, Alicia M.; Reinshagen, Katherine L.; Nadol, Joseph B.

doi:10.1002/lary.28380

Cited by 7 publications

(4 citation statements)

References 11 publications

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“…Recently, otopathology has been described in KS revealing that 20-30% children develop hearing loss. 6 In contrast to this study, our patient did not have any abnormalities of middle ear. Our index child had no response to commands when called and other stimuli, which led to investigations for hearing, which showed severe sensory neural deafness.…”

Section: Introductioncontrasting

confidence: 86%

Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation

2022

J Coll Physicians Surg Pak

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Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported so far. We report an eight-month baby boy with Kleefstra syndrome type 2 due to a novel de novo pathogenic mutation in the KMT2C (Lysine methyltransferase 2C) gene.

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Section: Introductioncontrasting

confidence: 86%

Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation

2022

J Coll Physicians Surg Pak

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“…Note that both reported cases had speech retardation with articulation problems. However, this retardation was not the consequence of hearing loss as previously described (20%-30%; Ciaccio et al, 2018;Okayasu et al, 2019;.…”

Section: Core Features and Other Clinical Associationssupporting

confidence: 73%

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation

Jobic

Lacot-Leriche

Piton

et al. 2021

American J of Med Genetics Pt A

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Kleefstra syndrome (KS) is a rare autosomic dominant genetic disorder caused by euchromatic histone methyltransferase 1 (EHMT1) alterations. Patients mainly present with moderate to severe intellectual disability, a severe delay in/or absence of speech, autism spectrum disorder, childhood hypotonia, neuropsychiatric anomalies, and distinctive dysmorphic features. Here, we report the cases of a male and a female, two younger siblings of three, with asymptomatic parents. An EHMT1 new mutation was identified. Both presented with a typical core phenotype. Some specific features were noted, such as macrocephaly (previously reported) and enuresis (not yet described). Parental analysis identified the mutation in the mosaic state in the father. Reverse phenotyping enabled us to highlight the pauci phenotype features of inguinal hernia, azoospermia, and possible behavioral disorders. This allowed us to adapt his follow-up and genetic counseling for the family. Our three reported cases provide a new description of KS with an intragenic EHMT1 mutation, whereas in the literature most reported cases have EHMT1 deletions. Moreover, in the areas of next-generation sequencing and trio techniques with parental segregation, it is important to remain cautious about disregarding variants based on an autosomal recessive hypothesis.

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“…Some aspects of anatomy relevant to cochlear implantation, via the facial recess approach, were similar to normal cochleae, including the facial nerve being in a typical position in 9 of 11 specimens (lateral descending segment [n = 1], contact with stapes suprastructure [n = 1]) (27). The RW niche and hook regions had conventional appearances, suggesting that surgeons should encounter a classical niche requiring drilling and use a standard trajectory when inserting the implant to prevent mechanical intraluminal damage.…”

Section: Discussionmentioning

confidence: 99%

Incomplete Partition Type II Cochlear Malformations: Delineating the Three-Dimensional Structure from Digitized Human Histopathological Specimens

Swords,

Geerardyn,

Zhu

et al. 2023

Otol Neurotol

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Hypothesis There are clinically relevant differences in scalae anatomy and spiral ganglion neuron (SGN) quantity between incomplete partition type II (IP-II) and normal cochleae. Background IP-II is a commonly implanted cochlear malformation. Detailed knowledge of intracochlear three-dimensional (3D) morphology may assist with cochlear implant (CI) electrode selection/design and enable optimization of audiologic programming based on SGN maps. Methods IP-II (n = 11) human temporal bone histological specimens were identified from the National Institute on Deafness and Other Communication Disorders National Temporal Bone Registry and digitized. The cochlear duct, scalae, and surgically relevant anatomy were reconstructed in 3D. A machine learning algorithm was applied to map the location and number of SGNs. Results 3D scalae morphology of the basal turn was normal. Scala tympani (ST) remained isolated for 540 degrees before fusing with scala vestibuli. Mean ST volume reduced below 1 mm2 after the first 340 degrees. Scala media was a distinct endolymphatic compartment throughout; mean ± standard deviation cochlear duct length was 28 ± 3 mm. SGNs were reduced compared with age-matched norms (mean, 48%; range, 5–90%). In some cases, SGNs failed to ascend Rosenthal's canal, remaining in an abnormal basalward modiolar location. Two forms of IP-II were seen: type A and type B. A majority (98–100%) of SGNs were located in the basal modiolus in type B IP-II, compared with 76 to 85% in type A. Conclusion Hallmark features of IP-II cochleae include the following: 1) fusion of the ST and scala vestibuli at a mean of 540 degrees, 2) highly variable and overall reduced SGN quantity compared with normative controls, and 3) abnormal SGN distribution with cell bodies failing to ascend Rosenthal's canal.

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Otopathology in Kleefstra Syndrome: A Case Report

Cited by 7 publications

References 11 publications

Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation

Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation

Incomplete Partition Type II Cochlear Malformations: Delineating the Three-Dimensional Structure from Digitized Human Histopathological Specimens

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