Abstract:
:Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromosome 2. This subject has a complex phenotype including skeletal and renal dysplasia, immune deficiencies, growth failure, retinal degeneration and ovarian insufficiency. Eighteen non-synonymous, rare homozygous variants were identified on chromosome 2. Additionally, five genes with compound heterozygous mutations were detected on other chromosomes that could lead to a disease phenotype independent of the uniparental disomy found in this case. Several candidate genes with potential connection to the phenotype are described but none are definitively proven to be causal. This study highlights the potential for detection of a large number of candidate genes using whole exome sequencing complicating interpretation in both the research and clinical settings. Forums must be created for publication and sharing of detailed phenotypic and genotypic reports to facilitate further biological discoveries and clinical counseling.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Carmichael H,Shen Y,Nguyen TT,Hirschhorn JN,Dauber Adoi
10.1111/cge.12064subject
Has Abstractpub_date
2013-09-01 00:00:00pages
213-22issue
3eissn
0009-9163issn
1399-0004journal_volume
84pub_type
杂志文章,评审abstract::Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testin...
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1985.tb00186.x
更新日期:1985-01-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1988-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1990-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
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更新日期:1986-07-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1981.tb01808.x
更新日期:1981-07-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1977.tb01316.x
更新日期:1977-04-01 00:00:00
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更新日期:2014-05-01 00:00:00
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更新日期:1977-05-01 00:00:00
abstract::Lee S-C, Guo J-Y, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh B-C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of here...
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