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

J 2023

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

TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK et. al.

Basic information

Original name

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

Authors

TRIZULJAK, Jakub (703 Slovakia, guarantor, belonging to the institution), Jakub DUBEN (703 Slovakia, belonging to the institution), Ivona BLAHÁKOVÁ (203 Czech Republic, belonging to the institution), Zuzana VRZALOVÁ (203 Czech Republic, belonging to the institution), Kateřina STAŇO KOZUBÍK (203 Czech Republic, belonging to the institution), Jiří ŠTIKA (203 Czech Republic, belonging to the institution), Lenka RADOVÁ (203 Czech Republic, belonging to the institution), Veronika BERGEROVÁ (703 Slovakia, belonging to the institution), Soňa MEJSTŘÍKOVÁ (203 Czech Republic, belonging to the institution), Věra HOŘÍNOVÁ (203 Czech Republic, belonging to the institution), Radim JANČÁLEK (203 Czech Republic, belonging to the institution), Šárka POSPÍŠILOVÁ (203 Czech Republic, belonging to the institution) and Michael DOUBEK (203 Czech Republic, belonging to the institution)

Edition

Molecular Syndromology, Basel, S. Karger, 2023, 1661-8769

Other information

Language

English

Type of outcome

Article in a journal

Field of Study

30101 Human genetics

Country of publisher

Switzerland

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Impact factor

Impact factor: 0.900

RIV identification code

RIV/00216224:14740/23:00132236

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.1159/000528744

UT WoS

001010227300001

Keywords in English

22q12 deletion; Microdeletion syndrome; Bilateral schwannoma; NF2

Abstract

V originále

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.

Links

EF16_026/0008448, research and development project

Name: Analýza českých genomů pro teranostiku

LX22NPO5102, research and development project

Name: Národní ústav pro výzkum rakoviny (Acronym: NÚVR)

Investor: Ministry of Education, Youth and Sports of the CR, National institute for cancer research, 5.1 EXCELES

MUNI/A/1224/2022, interní kód MU

Name: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit X

Investor: Masaryk University

NV16-29447A, research and development project

Name: Vyhledávání mutací predisponujících k familiárním hematologickým a onkologickým onemocněním

Files attached

Extensive__3.8_Mb-Sized_Deletion_of_22q12_in_a_Patient_with_Bilateral_Schwannoma__Intellectual_Disability__Sensorineural_Hearing_Loss__and_Epilepsy.pdf

Cite

TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Lenka RADOVÁ, Veronika BERGEROVÁ, Soňa MEJSTŘÍKOVÁ, Věra HOŘÍNOVÁ, Radim JANČÁLEK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. Molecular Syndromology. Basel: S. Karger, 2023, vol. 14, No 5, p. 439-448. ISSN 1661-8769. Available from: https://dx.doi.org/10.1159/000528744.

@article{2339257,
   author = {Trizuljak, Jakub and Duben, Jakub and Blaháková, Ivona and Vrzalová, Zuzana and Staňo Kozubík, Kateřina and Štika, Jiří and Radová, Lenka and Bergerová, Veronika and Mejstříková, Soňa and Hořínová, Věra and Jančálek, Radim and Pospíšilová, Šárka and Doubek, Michael},
   article_location = {Basel},
   article_number = {5},
   doi = {http://dx.doi.org/10.1159/000528744},
   keywords = {22q12 deletion; Microdeletion syndrome; Bilateral schwannoma; NF2},
   language = {eng},
   issn = {1661-8769},
   journal = {Molecular Syndromology},
   title = {Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy},
   url = {https://karger.com/msy/article/14/5/439/853188/Extensive-3-8-Mb-Sized-Deletion-of-22q12-in-a},
   volume = {14},
   year = {2023}
}

TY  - JOUR
ID  - 2339257
AU  - 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
PY  - 2023
TI  - Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy
JF  - Molecular Syndromology
VL  - 14
IS  - 5
SP  - 439-448
EP  - 439-448
PB  - S. Karger
SN  - 16618769
KW  - 22q12 deletion
KW  - Microdeletion syndrome
KW  - Bilateral schwannoma
KW  - NF2
UR  - https://karger.com/msy/article/14/5/439/853188/Extensive-3-8-Mb-Sized-Deletion-of-22q12-in-a
N2  - 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.
ER  -

TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Lenka RADOVÁ, Veronika BERGEROVÁ, Soňa MEJSTŘÍKOVÁ, Věra HOŘÍNOVÁ, Radim JANČÁLEK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. \textit{Molecular Syndromology}. Basel: S. Karger, 2023, vol.~14, No~5, p.~439-448. ISSN~1661-8769. Available from: https://dx.doi.org/10.1159/000528744.

Přehled o publikaci