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5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

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Bayat, Allan ; Bayat, Michael ; Broers, Chantal ; Polstra, Abeltje M ; Zwijnenburg, Petra J G ; Hjortshøj, Tina Duelund. / 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome. I: American Journal of Medical Genetics. Part A. 2021 ; Bind 185, Nr. 12. s. 3844-3850.

Bibtex

@article{41f9494fe3f84b0abf17a5a78719e2d4,
title = "5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome",
abstract = "Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.",
keywords = "5q11.2 microdeletion syndrome, developmental delay, DHX29, immunodeficiency, shortest region of overlap",
author = "Allan Bayat and Michael Bayat and Chantal Broers and Polstra, {Abeltje M} and Zwijnenburg, {Petra J G} and Hjortsh{\o}j, {Tina Duelund}",
note = "{\textcopyright} 2021 Wiley Periodicals LLC.",
year = "2021",
month = dec,
doi = "10.1002/ajmg.a.62428",
language = "English",
volume = "185",
pages = "3844--3850",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "JohnWiley & Sons, Inc",
number = "12",

}

RIS

TY - JOUR

T1 - 5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

AU - Bayat, Allan

AU - Bayat, Michael

AU - Broers, Chantal

AU - Polstra, Abeltje M

AU - Zwijnenburg, Petra J G

AU - Hjortshøj, Tina Duelund

N1 - © 2021 Wiley Periodicals LLC.

PY - 2021/12

Y1 - 2021/12

N2 - Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.

AB - Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.

KW - 5q11.2 microdeletion syndrome

KW - developmental delay

KW - DHX29

KW - immunodeficiency

KW - shortest region of overlap

UR - http://www.scopus.com/inward/record.url?scp=85111389324&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.62428

DO - 10.1002/ajmg.a.62428

M3 - Journal article

C2 - 34322994

VL - 185

SP - 3844

EP - 3850

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 12

ER -

ID: 67849997