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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Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual ...

Podrobný výpis o publikaci

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.

Základní údaje

Originální název

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

Autoři

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Organizace

Středoevropský technologický institut – Masarykova univerzita – Repozitář

DOI

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

UT WoS

001010227300001

Klíčová slova anglicky

22q12 deletion; Microdeletion syndrome; Bilateral schwannoma; NF2

Návaznosti

EF16_026/0008448, projekt VaV. LX22NPO5102, projekt VaV. MUNI/A/1224/2022, interní kód Repo. NV16-29447A, projekt VaV.

Změněno: 10. 3. 2024 03:40, RNDr. Daniel Jakubík

Anotace

V originále

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.

Přiložené soubory

https://is.muni.cz/publication/2339257/Extensive__3.8_Mb-Sized_Deletion_of_22q12_in_a_Patient_with_Bilateral_Schwannoma__Intellectual_Disability__Sensorineural_Hearing_Loss__and_Epilepsy.pdf

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Citovat

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 a 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, roč. 14, č. 5, s. 439-448. ISSN 1661-8769. Dostupné z: https://dx.doi.org/10.1159/000528744.

@article{58289,
   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  - 58289
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  - 1661-8769
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  - 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.
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 a 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, roč.~14, č.~5, s.~439-448. ISSN~1661-8769. Dostupné z: https://dx.doi.org/10.1159/000528744.