Abstract:
:Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a constituent of the ubiquitinization pathway, leading to reduced levels of transcript have been identified in Dac. Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Basel D,DePaepe A,Kilpatrick MW,Tsipouras Pdoi
10.1034/j.1399-0004.2003.00153.xsubject
Has Abstractpub_date
2003-10-01 00:00:00pages
350-4issue
4eissn
0009-9163issn
1399-0004pii
153journal_volume
64pub_type
杂志文章abstract::Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing bein...
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