Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome

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Standard

Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. / Barington, Maria; Bak, Mads; Kjartansdóttir, Kristín Rós; Hansen, Thomas van Overeem; Birkedal, Ulf; Østergaard, Elsebet; Hove, Hanne Buciek.

I: American Journal of Medical Genetics, Part A, 2024.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Barington, M, Bak, M, Kjartansdóttir, KR, Hansen, TVO, Birkedal, U, Østergaard, E & Hove, HB 2024, 'Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome', American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.63581

APA

Barington, M., Bak, M., Kjartansdóttir, K. R., Hansen, T. V. O., Birkedal, U., Østergaard, E., & Hove, H. B. (Accepteret/In press). Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.63581

Vancouver

Barington M, Bak M, Kjartansdóttir KR, Hansen TVO, Birkedal U, Østergaard E o.a. Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. American Journal of Medical Genetics, Part A. 2024. https://doi.org/10.1002/ajmg.a.63581

Author

Barington, Maria ; Bak, Mads ; Kjartansdóttir, Kristín Rós ; Hansen, Thomas van Overeem ; Birkedal, Ulf ; Østergaard, Elsebet ; Hove, Hanne Buciek. / Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome. I: American Journal of Medical Genetics, Part A. 2024.

Bibtex

@article{b6cbf079e8b14bc597befa0718628ca5,

title = "Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome",

abstract = "Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat-Wilson syndrome, a rare neurodevelopmental disorder, in an 8-year-old boy displaying the typical clinical features for Mowat-Wilson syndrome. The variant was not initially detected in genome sequencing data, but through deep phenotyping, which pointed to only one plausible candidate gene, manual inspection of genome sequencing alignment data enabled us to identify a de novo heterozygous Alu insertion in exon 8 of the ZEB2 gene. Nanopore long-read sequencing confirmed the Alu insertion, leading to the formation of a premature stop codon and likely haploinsufficiency of ZEB2. This underscores the importance of deep phenotyping and mobile element insertion analysis in uncovering genetic causes of monogenic disorders as these elements might be overlooked in standard next-generation sequencing protocols.",

keywords = "Alu, AluYa5, mobile element insertion analysis, Mowat-Wilson syndrome, SINE, ZEB2",

author = "Maria Barington and Mads Bak and Kjartansd{\'o}ttir, {Krist{\'i}n R{\'o}s} and Hansen, {Thomas van Overeem} and Ulf Birkedal and Elsebet {\O}stergaard and Hove, {Hanne Buciek}",

note = "Publisher Copyright: {\textcopyright} 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.",

year = "2024",

doi = "10.1002/ajmg.a.63581",

language = "English",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "JohnWiley & Sons, Inc.",

}

RIS

TY - JOUR

T1 - Novel Alu insertion in the ZEB2 gene causing Mowat-Wilson syndrome

AU - Barington, Maria

AU - Bak, Mads

AU - Kjartansdóttir, Kristín Rós

AU - Hansen, Thomas van Overeem

AU - Birkedal, Ulf

AU - Østergaard, Elsebet

AU - Hove, Hanne Buciek

PY - 2024

Y1 - 2024

N2 - Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat-Wilson syndrome, a rare neurodevelopmental disorder, in an 8-year-old boy displaying the typical clinical features for Mowat-Wilson syndrome. The variant was not initially detected in genome sequencing data, but through deep phenotyping, which pointed to only one plausible candidate gene, manual inspection of genome sequencing alignment data enabled us to identify a de novo heterozygous Alu insertion in exon 8 of the ZEB2 gene. Nanopore long-read sequencing confirmed the Alu insertion, leading to the formation of a premature stop codon and likely haploinsufficiency of ZEB2. This underscores the importance of deep phenotyping and mobile element insertion analysis in uncovering genetic causes of monogenic disorders as these elements might be overlooked in standard next-generation sequencing protocols.

AB - Alu elements are short, interspersed elements located throughout the genome, playing a role in human diversity, and occasionally causing genetic diseases. Here, we report a novel Alu insertion causing Mowat-Wilson syndrome, a rare neurodevelopmental disorder, in an 8-year-old boy displaying the typical clinical features for Mowat-Wilson syndrome. The variant was not initially detected in genome sequencing data, but through deep phenotyping, which pointed to only one plausible candidate gene, manual inspection of genome sequencing alignment data enabled us to identify a de novo heterozygous Alu insertion in exon 8 of the ZEB2 gene. Nanopore long-read sequencing confirmed the Alu insertion, leading to the formation of a premature stop codon and likely haploinsufficiency of ZEB2. This underscores the importance of deep phenotyping and mobile element insertion analysis in uncovering genetic causes of monogenic disorders as these elements might be overlooked in standard next-generation sequencing protocols.

KW - Alu

KW - AluYa5

KW - mobile element insertion analysis

KW - Mowat-Wilson syndrome

KW - SINE

KW - ZEB2

U2 - 10.1002/ajmg.a.63581

DO - 10.1002/ajmg.a.63581

M3 - Journal article

C2 - 38600862

AN - SCOPUS:85190438547

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

ER -

ID: 389509611

Institut for Klinisk Medicin