Abstract:
OBJECTIVE:Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. METHODS:Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. RESULTS:We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. 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. Useful genetic counseling was given to the family for prenatal guidance. CONCLUSION:Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling.
journal_name
Int J Pediatr Otorhinolaryngoljournal_title
International journal of pediatric otorhinolaryngologyauthors
Chen K,Zong L,Zhan Y,Wu X,Liu M,Jiang Hdoi
10.1016/j.ijporl.2015.03.006subject
Has Abstractpub_date
2015-05-01 00:00:00pages
745-8issue
5eissn
0165-5876issn
1872-8464pii
S0165-5876(15)00117-2journal_volume
79pub_type
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journal_title:International journal of pediatric otorhinolaryngology
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更新日期:2019-07-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
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更新日期:2019-09-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijporl.2006.07.001
更新日期:2006-11-01 00:00:00
abstract::Click-evoked otoacoustic emissions (cEOAEs) were repeatedly recorded in an operational sample of 144 very low birth weight (VLBW) infants. A subgroup of 22 was composed of all those babies in which at least 4 recordings were successfully done. The mean birth weight of this group was 1040 g, and the mean duration of as...
journal_title:International journal of pediatric otorhinolaryngology
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更新日期:2018-04-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2004-05-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2018-11-01 00:00:00
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更新日期:1983-11-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2018-11-01 00:00:00
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doi:10.1016/j.ijporl.2006.10.022
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更新日期:2009-12-01 00:00:00
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更新日期:2010-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ijporl.2006.09.011
更新日期:2007-01-01 00:00:00
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更新日期:2008-09-01 00:00:00
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pub_type: 杂志文章
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更新日期:2012-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ijporl.2004.06.007
更新日期:2004-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2015-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2002-03-15 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2017.12.030
更新日期:2018-03-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2008.12.013
更新日期:2009-04-01 00:00:00
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journal_title:International journal of pediatric otorhinolaryngology
pub_type: 杂志文章
doi:10.1016/j.ijporl.2018.08.023
更新日期:2018-11-01 00:00:00