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Quoted phrase not found in phrase index: "Waardenburg syndrome type 2E"
Page 1
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.
Ren S, Chen X, Kong X, Chen Y, Wu Q, Jiao Z, Shi H. Ren S, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1128. doi: 10.1002/mgg3.1128. Epub 2020 Jan 20. Mol Genet Genomic Med. 2020. PMID: 31960627 Free PMC article.
RESULTS: We identified six novel variants in microphthalmia-associated transcription factor (MITF) and SRY-box 10 (SOX10), which were predicted to be disease causing by in silico analysis. Our results showed that mutations in SOX10 and MITF are two major causes of deafness …
RESULTS: We identified six novel variants in microphthalmia-associated transcription factor (MITF) and SRY-box 10 (SOX10), which were pre …
Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
Chen K, Wang H, Lai Y. Chen K, et al. Front Endocrinol (Lausanne). 2021 Feb 1;11:592831. doi: 10.3389/fendo.2020.592831. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33597923 Free PMC article. Review.
This results in a frame-shifting mutation of the 394th amino acid serine in exon4 with the resulting the amino acid sequence of the protein predicted to be TMAQPSP PSPAPSLTTL TISPQDPIMA TRARPLASTR PSPIWGPRSG PSTRPSLTPA PQGPSPTAPH TGSSQYIRHC PGPKGGPVAT TPRPAPAPSL CALFLAHLRP …
This results in a frame-shifting mutation of the 394th amino acid serine in exon4 with the resulting the amino acid sequence of the protein …
Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.
Nasirshalal M, Panahi M, Javanshir N, Salmani H. Nasirshalal M, et al. J Clin Lab Anal. 2021 Jun;35(6):e23792. doi: 10.1002/jcla.23792. Epub 2021 May 4. J Clin Lab Anal. 2021. PMID: 33942382 Free PMC article.
RESULTS: A novel pathogenic heterozygous mutation, c.425T>A; p.L142Ter, was detected in the MITF gene's exon 4. Bioinformatics analysis predicted c.425T>A; p.L142Ter as a possible pathogenic variation. It appears that the mutated transcript level declines through non …
RESULTS: A novel pathogenic heterozygous mutation, c.425T>A; p.L142Ter, was detected in the MITF gene's exon 4. Bioinformatics analysis …
Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.
Chen K, Zong L, Zhan Y, Wu X, Liu M, Jiang H. Chen K, et al. Int J Pediatr Otorhinolaryngol. 2015 May;79(5):745-8. doi: 10.1016/j.ijporl.2015.03.006. Epub 2015 Mar 17. Int J Pediatr Otorhinolaryngol. 2015. PMID: 25817900
The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. ...
The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics …
A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Li Z, Xu K, Zhou Z, Liang C, Gu W, Ran J. Li Z, et al. Mol Biol Rep. 2024 Apr 20;51(1):536. doi: 10.1007/s11033-024-09469-7. Mol Biol Rep. 2024. PMID: 38642155
WES was performed on the patient and his parents to screen causative genetic variants and Sanger sequencing was performed to validate the candidate mutation. The AlphaFold2 software was used to predict the changes in the 3D structure of the mutant protein. Western blotting …
WES was performed on the patient and his parents to screen causative genetic variants and Sanger sequencing was performed to validate the ca …
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics; van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H. Zazo Seco C, et al. Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29. Am J Hum Genet. 2015. PMID: 26522471 Free PMC article.
Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
Nobukuni Y, Watanabe A, Takeda K, Skarka H, Tachibana M. Nobukuni Y, et al. Am J Hum Genet. 1996 Jul;59(1):76-83. Am J Hum Genet. 1996. PMID: 8659547 Free PMC article.
The two mutations (C760--> T and C895--> T) create stop codons in exons 7 and 8, respectively. Corresponding mutant alleles predict the truncated proteins lacking HLH-Zip or Zip structure. To understand how these mutations cause WS2 in heterozygotes, we generated mut …
The two mutations (C760--> T and C895--> T) create stop codons in exons 7 and 8, respectively. Corresponding mutant alleles predict …
A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. Lautenschlager NT, et al. Genet Anal. 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. Genet Anal. 1996. PMID: 8880147
This mutation introduces a frame-shift and stop codon which leads to a truncation of the protein. This mutation is predicted to have phenotypic consequences not withstanding evidence of reduced penetrance and heterogeneity within the family studied....
This mutation introduces a frame-shift and stop codon which leads to a truncation of the protein. This mutation is predicted to have …