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Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

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Harvard

Nøstvik, M, Kateta, SM, Schönewolf-Greulich, B, Afenjar, A, Barth, M, Boschann, F, Doummar, D, Haack, TB, Keren, B, Livshits, LA, Mei, D, Park, J, Pisano, T, Prouteau, C, Umair, M, Waqas, A, Ziegler, A, Guerrini, R, Møller, RS & Tümer, Z 2021, 'Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders', Clinical Genetics, bind 100, nr. 5, s. 628-633. https://doi.org/10.1111/cge.14051

APA

Nøstvik, M., Kateta, S. M., Schönewolf-Greulich, B., Afenjar, A., Barth, M., Boschann, F., Doummar, D., Haack, T. B., Keren, B., Livshits, L. A., Mei, D., Park, J., Pisano, T., Prouteau, C., Umair, M., Waqas, A., Ziegler, A., Guerrini, R., Møller, R. S., & Tümer, Z. (2021). Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. Clinical Genetics, 100(5), 628-633. https://doi.org/10.1111/cge.14051

CBE

Nøstvik M, Kateta SM, Schönewolf-Greulich B, Afenjar A, Barth M, Boschann F, Doummar D, Haack TB, Keren B, Livshits LA, Mei D, Park J, Pisano T, Prouteau C, Umair M, Waqas A, Ziegler A, Guerrini R, Møller RS, Tümer Z. 2021. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. Clinical Genetics. 100(5):628-633. https://doi.org/10.1111/cge.14051

MLA

Vancouver

Author

Nøstvik, Miriam ; Kateta, Sarah M ; Schönewolf-Greulich, Bitten ; Afenjar, Alexandra ; Barth, Magalie ; Boschann, Felix ; Doummar, Diane ; Haack, Tobias B ; Keren, Boris ; Livshits, Ludmila A ; Mei, Davide ; Park, Joohyun ; Pisano, Tiziana ; Prouteau, Clement ; Umair, Muhammad ; Waqas, Ahmed ; Ziegler, Alban ; Guerrini, Renzo ; Møller, Rikke S ; Tümer, Zeynep. / Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. I: Clinical Genetics. 2021 ; Bind 100, Nr. 5. s. 628-633.

Bibtex

@article{7ed6e69b5dfb466d8ae831209a444e81,
title = "Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders",
abstract = "Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we present the clinical and genetic features of 21 individuals with biallelic PUS3 variants: seven new and 14 previously reported individuals, where clinical features of two were updated. The clinical and genetic information were collected through collaborations or by literature search. All individuals were characterized by the local clinicians and the gene variants were identified by next generation sequencing (NGS) based methodologies. The clinical picture was dominated by global developmental delay, epilepsy, hypotonia and microcephaly. Gray sclera, which has previously been suggested to be a characteristic feature of PUS3-associated phenotypes, was reported in only seven individuals. The patients had some dysmorphic facial features, but a recognizable gestalt was not observed. In conclusion, homozygous and compound heterozygous PUS3 variants lead to a rare neurodevelopmental disorder. Further functional studies are necessary to understand involvement of PUS3 and tRNA biogenesis in normal and abnormal brain development.",
keywords = "epilepsy, global developmental delay, intellectual disability, microcephaly, pseudouridine, PUS3, tRNA biogenesis, tRNA modification",
author = "Miriam N{\o}stvik and Kateta, {Sarah M} and Bitten Sch{\"o}newolf-Greulich and Alexandra Afenjar and Magalie Barth and Felix Boschann and Diane Doummar and Haack, {Tobias B} and Boris Keren and Livshits, {Ludmila A} and Davide Mei and Joohyun Park and Tiziana Pisano and Clement Prouteau and Muhammad Umair and Ahmed Waqas and Alban Ziegler and Renzo Guerrini and M{\o}ller, {Rikke S} and Zeynep T{\"u}mer",
note = "{\textcopyright} 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2021",
month = nov,
doi = "10.1111/cge.14051",
language = "English",
volume = "100",
pages = "628--633",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Munksgaard",
number = "5",

}

RIS

TY - JOUR

T1 - Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

AU - Nøstvik, Miriam

AU - Kateta, Sarah M

AU - Schönewolf-Greulich, Bitten

AU - Afenjar, Alexandra

AU - Barth, Magalie

AU - Boschann, Felix

AU - Doummar, Diane

AU - Haack, Tobias B

AU - Keren, Boris

AU - Livshits, Ludmila A

AU - Mei, Davide

AU - Park, Joohyun

AU - Pisano, Tiziana

AU - Prouteau, Clement

AU - Umair, Muhammad

AU - Waqas, Ahmed

AU - Ziegler, Alban

AU - Guerrini, Renzo

AU - Møller, Rikke S

AU - Tümer, Zeynep

N1 - © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2021/11

Y1 - 2021/11

N2 - Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we present the clinical and genetic features of 21 individuals with biallelic PUS3 variants: seven new and 14 previously reported individuals, where clinical features of two were updated. The clinical and genetic information were collected through collaborations or by literature search. All individuals were characterized by the local clinicians and the gene variants were identified by next generation sequencing (NGS) based methodologies. The clinical picture was dominated by global developmental delay, epilepsy, hypotonia and microcephaly. Gray sclera, which has previously been suggested to be a characteristic feature of PUS3-associated phenotypes, was reported in only seven individuals. The patients had some dysmorphic facial features, but a recognizable gestalt was not observed. In conclusion, homozygous and compound heterozygous PUS3 variants lead to a rare neurodevelopmental disorder. Further functional studies are necessary to understand involvement of PUS3 and tRNA biogenesis in normal and abnormal brain development.

AB - Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including transfer RNA (tRNA). Here we present the clinical and genetic features of 21 individuals with biallelic PUS3 variants: seven new and 14 previously reported individuals, where clinical features of two were updated. The clinical and genetic information were collected through collaborations or by literature search. All individuals were characterized by the local clinicians and the gene variants were identified by next generation sequencing (NGS) based methodologies. The clinical picture was dominated by global developmental delay, epilepsy, hypotonia and microcephaly. Gray sclera, which has previously been suggested to be a characteristic feature of PUS3-associated phenotypes, was reported in only seven individuals. The patients had some dysmorphic facial features, but a recognizable gestalt was not observed. In conclusion, homozygous and compound heterozygous PUS3 variants lead to a rare neurodevelopmental disorder. Further functional studies are necessary to understand involvement of PUS3 and tRNA biogenesis in normal and abnormal brain development.

KW - epilepsy

KW - global developmental delay

KW - intellectual disability

KW - microcephaly

KW - pseudouridine

KW - PUS3

KW - tRNA biogenesis

KW - tRNA modification

UR - http://www.scopus.com/inward/record.url?scp=85113969890&partnerID=8YFLogxK

U2 - 10.1111/cge.14051

DO - 10.1111/cge.14051

M3 - Journal article

C2 - 34415064

VL - 100

SP - 628

EP - 633

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 5

ER -

ID: 67846717