Abstract:
:Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies. Both autosomal dominant and autosomal recessive patterns of inheritance have been reported. Since the description of autosomal dominant Robinow Syndrome (ADRS; OMIM 180700) in 1969 by Meinhard Robinow and colleagues, the molecular etiology remained elusive until only recently. WNT5A was proposed to be the candidate gene for ADRS, as mutations were found in two affected families, one of those being the originally described index family. We report three families with RS caused by novel heterozygous WNT5A mutations, which were confirmed in the first family by whole exome sequencing, and in all by Sanger sequencing. To our knowledge, this is the largest number of published families with ADRS in whom a WNT5A mutation was identified. Families 1 and 2 are the first cases showing de novo inheritance in the affected family members and thus strengthen the evidence for WNT5A as the causative gene in ADRS. Finally, we propose WNT5A mutation specificity in ADRS, which may affect interactions with other proteins in the Wnt pathway.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Roifman M,Marcelis CL,Paton T,Marshall C,Silver R,Lohr JL,Yntema HG,Venselaar H,Kayserili H,van Bon B,Seaward G,FORGE Canada Consortium.,Brunner HG,Chitayat Ddoi
10.1111/cge.12401subject
Has Abstractpub_date
2015-01-01 00:00:00pages
34-41issue
1eissn
0009-9163issn
1399-0004journal_volume
87pub_type
杂志文章abstract::Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb-girdle MD (LGMD)-related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic dia...
journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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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
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1975.tb00349.x
更新日期:1975-05-01 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:1980-02-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2019-02-01 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:1985-04-01 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:2004-07-01 00:00:00
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pub_type: 杂志文章
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journal_title:Clinical genetics
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pub_type: 杂志文章
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journal_title:Clinical genetics
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abstract::46,XY gonadal dysgenesis was transmitted as an autosomal-dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal m...
journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:2008-06-01 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:2015-03-01 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:1977-11-01 00:00:00