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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F23%3A00078123" target="_blank" >RIV/00159816:_____/23:00078123 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14740/23:00132236 RIV/65269705:_____/23:00078123

Result on the web

<a href="https://karger.com/msy/article/doi/10.1159/000528744/853188/Extensive-3-8-Mb-Sized-Deletion-of-22q12-in-a" target="_blank" >https://karger.com/msy/article/doi/10.1159/000528744/853188/Extensive-3-8-Mb-Sized-Deletion-of-22q12-in-a</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000528744" target="_blank" >10.1159/000528744</a>

Result language

angličtina

Original language name

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

Original language description

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 -&gt; 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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Molecular Syndromology

ISSN

1661-8769

e-ISSN

1661-8777

Volume of the periodical

14

Issue of the periodical within the volume

5

Country of publishing house

CH - SWITZERLAND

Number of pages

10

Pages from-to

439-448

UT code for WoS article

001010227300001

EID of the result in the Scopus database

2-s2.0-85174521700