Abstract:
BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was used to perform segregation analyses on remaining family members. RESULTS:We identified and classified a pathogenic GFI1 variant and a likely pathogenic variant in MYO6 which together explain the complex phenotypes seen in this family. CONCLUSIONS:We present a case illustrating the benefits of a broad screening approach that allows identification of oligogenic determinants of complex human phenotypes which may have been missed if the screening was limited to a targeted gene panel with the assumption of a syndromic disorder. This is important for correct genetic diagnosis of families and disentangling the range and severity of phenotypes associated with high impact variants.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Venugopal P,Gagliardi L,Forsyth C,Feng J,Phillips K,Babic M,Poplawski NK,Rienhoff HY Jr,Schreiber AW,Hahn CN,Brown AL,Scott HSdoi
10.1186/s12881-020-0971-zsubject
Has Abstractpub_date
2020-02-17 00:00:00pages
35issue
1issn
1471-2350pii
10.1186/s12881-020-0971-zjournal_volume
21pub_type
杂志文章abstract:BACKGROUND:The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants provides a list of SNPs showing the strongest associations with renal traits which need to be v...
journal_title:BMC medical genetics
pub_type: 杂志文章
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abstract:BACKGROUND:To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-52
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abstract:BACKGROUND:Elastogenesis of elastic extracellular matrix (ECM) which was recognized as a major component of blood vessels has been believed for a long time to play only a passive role in the dynamic vascular changes of typical hypertension. Emilin1 gene participated in the transcription of ECM's formation and was recog...
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-1
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journal_title:BMC medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2016-07-19 00:00:00
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abstract:BACKGROUND:Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unk...
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更新日期:2018-05-16 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2019-07-16 00:00:00
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更新日期:2009-05-09 00:00:00
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pub_type: 杂志文章
doi:10.1186/s12881-015-0190-1
更新日期:2015-06-30 00:00:00
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pub_type: 杂志文章
doi:10.1186/1471-2350-13-108
更新日期:2012-11-16 00:00:00
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pub_type: 杂志文章
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更新日期:2012-05-30 00:00:00
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更新日期:2020-04-03 00:00:00
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pub_type: 杂志文章,meta分析
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更新日期:2015-05-13 00:00:00
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更新日期:2008-12-17 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2007-03-08 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2002-10-11 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-4-6
更新日期:2003-07-18 00:00:00
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pub_type: 杂志文章
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journal_title:BMC medical genetics
pub_type: 杂志文章
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pub_type: 杂志文章
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