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A comprehensive genetic analysis of Slovenian families with multiple cases of orofacial clefts reveals novel variants in the genes IRF6, GRHL3, and TBX22
ID
Slavec, Lara
(
Author
),
ID
Geršak, Ksenija
(
Author
),
ID
Eberlinc, Andreja
(
Author
),
ID
Hovnik, Tinka
(
Author
),
ID
Lovrečić, Luca
(
Author
),
ID
Mlinarič-Raščan, Irena
(
Author
),
ID
Karas Kuželički, Nataša
(
Author
)
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https://www.mdpi.com/1422-0067/24/5/4262
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Abstract
Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34 Slovenian multi-case families with apparent nsOFCs (isolated OFCs or OFCs with minor additional facial signs). First, we examined IRF6, GRHL3, and TBX22 by Sanger or whole exome sequencing to identify VWS and CPX families. Next, we examined 72 additional nsOFC genes in the remaining families. Variant validation and co-segregation analysis were performed for each identified variant using Sanger sequencing, real-time quantitative PCR and microarray-based comparative genomic hybridization. We identified six disease-causing variants (three novel) in IRF6, GRHL3, and TBX22 in 21% of families with apparent nsOFCs, suggesting that our sequencing approach is useful for distinguishing syOFCs from nsOFCs. The novel variants, a frameshift variant in exon 7 of IRF6, a splice-altering variant in GRHL3, and a deletion of the coding exons of TBX22, indicate VWS1, VWS2, and CPX, respectively. We also identified five rare variants in nsOFC genes in families without VWS or CPX, but they could not be conclusively linked to nsOFC.
Language:
English
Keywords:
genetics
,
family study
,
non-syndromic orofacial cleft
,
Van der Woude syndrome
,
X-linked cleft palate with or without ankyloglossia
,
IRF6
,
GRHL3
,
TBX22
,
whole exome sequencing
Work type:
Article
Typology:
1.01 - Original Scientific Article
Organization:
FFA - Faculty of Pharmacy
Publication status:
Published
Publication version:
Version of Record
Year:
2023
Number of pages:
19 str.
Numbering:
Vol. 24, iss. 5, art. 4262
PID:
20.500.12556/RUL-144418
UDC:
575
ISSN on article:
1422-0067
DOI:
10.3390/ijms24054262
COBISS.SI-ID:
142479875
Publication date in RUL:
21.02.2023
Views:
682
Downloads:
73
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Record is a part of a journal
Title:
International journal of molecular sciences
Shortened title:
Int. j. mol. sci.
Publisher:
MDPI
ISSN:
1422-0067
COBISS.SI-ID:
2779162
Licences
License:
CC BY 4.0, Creative Commons Attribution 4.0 International
Link:
http://creativecommons.org/licenses/by/4.0/
Description:
This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Secondary language
Language:
Slovenian
Keywords:
etiologija nesindromskih orofacialnih razcepov
,
družinska študija
,
nesindromski orofacialni razcep
,
Van der Woudov sindrom
,
X-povezana razcepka neba z ali brez ankiloglosije
,
sekvenciranje celotnega eksoma
,
genetika
Projects
Funder:
ARRS - Slovenian Research Agency
Project number:
P3-0124-2020
Name:
Metabolni in prirojeni dejavniki reproduktivnega zdravja, porod III
Funder:
ARRS - Slovenian Research Agency
Project number:
J3-8207-2017
Name:
Novi izzivi folatne terapije v porodništvu in ginekologiji
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