Abstract:
:Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of 1 or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c.409delA, p.Ser137Alafs*19) in the EPS15L1 gene located on chromosome 19p13.11. This is the first biallelic variant identified in the EPS15L1 gene underlying SHFM. Our findings report the first direct involvement of EPS15L1 gene in the development of human limbs.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Umair M,Ullah A,Abbas S,Ahmad F,Basit S,Ahmad Wdoi
10.1111/cge.13152subject
Has Abstractpub_date
2018-03-01 00:00:00pages
699-702issue
3eissn
0009-9163issn
1399-0004journal_volume
93pub_type
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journal_title:Clinical genetics
pub_type: 杂志文章
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journal_title:Clinical genetics
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doi:10.1111/cge.12536
更新日期:2015-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01904.x
更新日期:1986-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:2010-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.1979.tb01354.x
更新日期:1979-12-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:1997-01-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:1994-06-01 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:2021-02-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2013-04-01 00:00:00