A novel familial mutation associated with Treacher Collins syndrome: A case report.
P53
Treacher Collins syndrome
point mutation
treacle ribosome biogenesis factor 1
Journal
Biomedical reports
ISSN: 2049-9434
Titre abrégé: Biomed Rep
Pays: England
ID NLM: 101613227
Informations de publication
Date de publication:
May 2020
May 2020
Historique:
received:
07
02
2019
accepted:
21
10
2019
entrez:
8
4
2020
pubmed:
8
4
2020
medline:
8
4
2020
Statut:
ppublish
Résumé
Treacher Collins syndrome (TCS) is a type of mandibulofacial dysostosis with incomplete penetrance and high intra- and interfamilial clinical heterogeneity, and it is associated with mutations of treacle ribosome biogenesis factor 1 (TCOF1), and RNA polymerase I and III subunit (POLR1)C and POLR1D genes. In the present case report, a patient with TCS with auricle dysplasia and hearing loss accompanied with intellectual disability is described. Sequence analysis was performed on blood samples from the patient and his father via oligonucleotide-based target capture, followed by next-generation sequencing. Alignment and variant calls were generated using the Burrows-Wheeler Aligner and Genome Analysis Toolkit, followed by bioinformatics analysis of the detected variants. A novel heterozygous mutation, c.911C>T (p.Ser304Leu), was detected in the TCOF1 gene, which was inherited from the father. The father of the patient only suffered from hearing loss. The present report is the first to identify an association between phenotypic variability and TCOF1 gene mutations and thus contributes to our understanding of the association between the genotype and phenotype in patients with TCS and offers clinically relevant information for diagnosis of the syndrome.
Identifiants
pubmed: 32257192
doi: 10.3892/br.2020.1284
pii: BR-0-0-1284
pmc: PMC7100132
doi:
Types de publication
Journal Article
Langues
eng
Pagination
285-289Informations de copyright
Copyright © 2020, Spandidos Publications.
Références
Am J Med Genet A. 2013 Nov;161A(11):2855-9
pubmed: 24108658
Dev Biol. 2004 Nov 1;275(1):1-11
pubmed: 15464568
Am J Med Genet A. 2010 Dec;152A(12):2984-94
pubmed: 20734335
Gene. 2005 Oct 10;359:44-52
pubmed: 16102917
Hum Mol Genet. 1996;5 Spec No:1391-6
pubmed: 8875242
Hum Mol Genet. 2005 Jul 15;14(14):2035-43
pubmed: 15930015
Hum Mutat. 2000 Oct;16(4):315-22
pubmed: 11013442
Am J Hum Genet. 1991 Jul;49(1):17-22
pubmed: 1676560
Eur J Hum Genet. 2004 Nov;12(11):879-90
pubmed: 15340364
J Biol Chem. 2003 Sep 5;278(36):34309-19
pubmed: 12777385
Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3110-5
pubmed: 9096354
Eur J Hum Genet. 2009 Mar;17(3):275-83
pubmed: 19107148
Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13403-8
pubmed: 16938878
Clin Dysmorphol. 1994 Apr;3(2):96-103
pubmed: 8055143
Eur J Hum Genet. 2003 Sep;11(9):718-22
pubmed: 12939661
Hum Mutat. 2005 May;25(5):429-34
pubmed: 15832313
Nat Med. 2008 Feb;14(2):125-33
pubmed: 18246078