Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect.
CLTCL1
TBX1
congenital heart defect
microtia
target capture sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
07 04 2023
07 04 2023
Historique:
received:
10
02
2023
revised:
29
03
2023
accepted:
04
04
2023
medline:
1
5
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
epublish
Résumé
Microtia is a congenital malformation characterized by a small, abnormally shaped auricle (pinna) ranging in severity. Congenital heart defect (CHD) is one of the comorbid anomalies with microtia. However, the genetic basis of the co-existence of microtia and CHD remains unclear. Copy number variations (CNVs) of 22q11.2 contribute significantly to microtia and CHD, respectively, thus suggesting a possible shared genetic cause embedded in this genomic region. In this study, 19 sporadic patients with microtia and CHD, as well as a nuclear family, were enrolled for genetic screening of single nucleotide variations (SNVs) and CNVs in 22q11.2 by target capture sequencing. We detected a total of 105 potential deleterious variations, which were enriched in ear- or heart-development-related genes, including
Identifiants
pubmed: 37107637
pii: genes14040879
doi: 10.3390/genes14040879
pmc: PMC10137977
pii:
doi:
Substances chimiques
MicroRNAs
0
RNA-Binding Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Pediatr Cardiol. 1993 Mar;14(2):75-81
pubmed: 8469635
Birth Defects Res A Clin Mol Teratol. 2004 Jul;70(7):472-5
pubmed: 15259037
Dev Biol. 2012 Feb 1;362(1):50-6
pubmed: 22138056
Neuron. 2015 Sep 23;87(6):1234-1247
pubmed: 26402606
Bioinformatics. 2010 Mar 15;26(6):841-2
pubmed: 20110278
Lancet. 2003 Oct 25;362(9393):1366-73
pubmed: 14585638
Database (Oxford). 2015 Mar 27;2015:
pubmed: 25818895
Am J Hum Genet. 2016 Feb 4;98(2):347-57
pubmed: 26805781
Nature. 2001 Dec 6;414(6864):652-6
pubmed: 11740563
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Nat Genet. 2007 Mar;39(3):380-5
pubmed: 17259983
Hum Mutat. 2013 Sep;34(9):E2393-402
pubmed: 23843252
PLoS Genet. 2015 Apr 23;11(4):e1005165
pubmed: 25906071
Mol Cell Neurosci. 2015 Mar;65:82-91
pubmed: 25724483
Mol Psychiatry. 2008 Nov;13(11):1060-8
pubmed: 17893707
Nat Rev Dis Primers. 2015 Nov 19;1:15071
pubmed: 27189754
Acta Otolaryngol Suppl. 1996;525:18-24
pubmed: 8908264
Nature. 2009 May 28;459(7246):569-73
pubmed: 19404257
J Neurodev Disord. 2019 Jun 7;11(1):7
pubmed: 31174463
Nature. 2001 Mar 1;410(6824):97-101
pubmed: 11242049
Am J Med Genet A. 2008 Jul 15;146A(14):1815-9
pubmed: 18553555
Nature. 2015 Oct 1;526(7571):75-81
pubmed: 26432246
Medicine (Baltimore). 2011 Jan;90(1):1-18
pubmed: 21200182
Nat Genet. 2008 Jun;40(6):751-60
pubmed: 18469815
Hum Mol Genet. 2000 Mar 1;9(4):489-501
pubmed: 10699172
OMICS. 2012 May;16(5):284-7
pubmed: 22455463
J Thorac Cardiovasc Surg. 2005 Dec;130(6):1531-6
pubmed: 16307994
Genes (Basel). 2023 Jan 07;14(1):
pubmed: 36672911
Tumour Biol. 2016 Jul;37(7):9919-30
pubmed: 26815503
Brain Res Bull. 2021 May;170:129-136
pubmed: 33581313
Nature. 2009 Jun 18;459(7249):987-91
pubmed: 19536264
Zhonghua Liu Xing Bing Xue Za Zhi. 2006 May;27(5):392-5
pubmed: 16981332
Am J Med Genet A. 2011 Jul;155A(7):1623-33
pubmed: 21671380
Hum Mol Genet. 2002 Apr 15;11(8):915-22
pubmed: 11971873
Am J Med Genet A. 2009 Jan;149A(1):40-60
pubmed: 19152421
Nat Rev Genet. 2015 Mar;16(3):172-83
pubmed: 25645873
J Med Genet. 2009 Jun;46(6):361-9
pubmed: 19293168
Curr Biol. 2002 May 14;12(10):R366-71
pubmed: 12015140
Development. 2009 Sep;136(18):3173-83
pubmed: 19700621
Nucleic Acids Res. 2005 Jan 1;33(Database issue):D501-4
pubmed: 15608248
Genes (Basel). 2023 Jan 06;14(1):
pubmed: 36672900
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Am J Med Genet A. 2012 Jan;158A(1):124-39
pubmed: 22106030
J Med Genet. 1998 Apr;35(4):346; author reply 347
pubmed: 9598737
Mol Cancer Res. 2013 Jan;11(1):74-85
pubmed: 23131994
Nature. 2010 Feb 4;463(7281):666-70
pubmed: 19966786
Wiley Interdiscip Rev Dev Biol. 2013 May-Jun;2(3):393-403
pubmed: 23799583
Congenit Anom (Kyoto). 2005 Dec;45(4):119-24
pubmed: 16359491
Am J Hum Genet. 2005 Jul;77(1):78-88
pubmed: 15918152
J Am Coll Cardiol. 2011 Nov 15;58(21):2241-7
pubmed: 22078432
Bioinformatics. 2011 Aug 1;27(15):2156-8
pubmed: 21653522
Science. 1999 Feb 19;283(5405):1158-61
pubmed: 10024240
Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1211-7
pubmed: 17548114
Nature. 2006 Feb 2;439(7076):604-7
pubmed: 16452979
Nat Genet. 2001 Mar;27(3):286-91
pubmed: 11242110
Plast Reconstr Surg. 2018 Dec;142(6):892e-903e
pubmed: 30489530
Mamm Genome. 1996 Sep;7(9):639-43
pubmed: 8703114
Genet Med. 2019 Mar;21(3):601-607
pubmed: 30245509
J Cell Biol. 2003 Jul 7;162(1):71-84
pubmed: 12847084
Genome Res. 2011 Jun;21(6):974-84
pubmed: 21324876
Am J Med Genet A. 2011 Feb;155A(2):458
pubmed: 21271674
Cell. 2001 Feb 23;104(4):619-29
pubmed: 11239417
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Biochim Biophys Acta. 1998 Mar 9;1396(2):158-62
pubmed: 9540831
Hum Mol Genet. 1999 Jul;8(7):1157-67
pubmed: 10369860
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Hum Mol Genet. 2015 Jul 1;24(13):3732-41
pubmed: 25855803
EBioMedicine. 2018 Dec;38:217-227
pubmed: 30448225
Ann Transl Med. 2015 Dec;3(21):333
pubmed: 26734643
J Craniofac Surg. 2021 May 1;32(3):920-924
pubmed: 33252535
Am J Hum Genet. 2016 Feb 4;98(2):358-62
pubmed: 26805782