Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy

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Publikace nespadá pod Filozofickou fakultu, ale pod Středoevropský technologický institut. Oficiální stránka publikace je na webu muni.cz.
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TRIZULJAK Jakub DUBEN Jakub BLAHÁKOVÁ Ivona VRZALOVÁ Zuzana STAŇO KOZUBÍK Kateřina ŠTIKA Jiří RADOVÁ Lenka BERGEROVÁ Veronika MEJSTŘÍKOVÁ Soňa HOŘÍNOVÁ Věra JANČÁLEK Radim POSPÍŠILOVÁ Šárka DOUBEK Michael

Rok publikování 2023
Druh Článek v odborném periodiku
Časopis / Zdroj Molecular Syndromology
Fakulta / Pracoviště MU

Středoevropský technologický institut

Citace
www https://karger.com/msy/article/14/5/439/853188/Extensive-3-8-Mb-Sized-Deletion-of-22q12-in-a
Doi http://dx.doi.org/10.1159/000528744
Klíčová slova 22q12 deletion; Microdeletion syndrome; Bilateral schwannoma; NF2
Přiložené soubory
Popis Introduction: In contrast with the well-known and described deletion of the 22q11 chromosome region responsible for DiGeorge syndrome, 22q12 deletions are much rarer. Only a few dozen cases have been reported so far. This region contains genes responsible for cell cycle control, chromatin modification, transmembrane signaling, cell adhesion, and neural development, as well as several cancer predisposition genes. Case Presentation: We present a patient with cleft palate, sensorineural hearing loss, vestibular dysfunction, epilepsy, mild to moderate intellectual disability, divergent strabism, pes equinovarus, platyspondylia, and bilateral schwannoma. Using Microarray-based Comparative Genomic Hybridization (aCGH), we identified the de novo 3.8 Mb interstitial deletion at 22q12.1 -> 22q12.3. We confirmed deletion of the critical NF2 region by MLPA analysis. Discussion: Large 22q12 deletion in the proband encases the critical NF2 region, responsible for development of bilateral schwannoma. We compared the phenotype of the patient with previously reported cases. Interestingly, our patient developed cleft palate even without deletion of the MN1 gene, deemed responsible in previous studies. We also strongly suspect the DEPDC5 gene deletion to be responsible for seizures, consistent with previously reported cases.
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