Abstract:
:VACTERL association is a condition comprising multisystem congenital malformations, causing severe physical disability in affected individuals. It is typically defined by the concurrence of at least three of the following component features: vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheo-oesophageal fistula (TE), renal dysplasia (R) and limb abnormalities (L). Vertebral anomaly is one of the most important and common defects that has been reported in approximately 60-95% of all VACTERL patients. Recent breakthroughs have suggested that genetic factors play an important role in VACTERL association, especially in those with vertebral phenotypes. In this review, we summarised the genetic studies of the VACTERL association, especially focusing on the genetic aetiology of patients with vertebral anomalies. Furthermore, genetic reports of other syndromes with vertebral phenotypes overlapping with VACTERL association are also included. We aim to provide a further understanding of the genetic aetiology and a better evidence for genetic diagnosis of the association and vertebral anomalies.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Chen Y,Liu Z,Chen J,Zuo Y,Liu S,Chen W,Liu G,Qiu G,Giampietro PF,Wu N,Wu Zdoi
10.1136/jmedgenet-2015-103554subject
Has Abstractpub_date
2016-07-01 00:00:00pages
431-7issue
7eissn
0022-2593issn
1468-6244pii
jmedgenet-2015-103554journal_volume
53pub_type
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