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Phenotypic diversity of patients diagnosed with VACTERL association
Author(s) -
Husain Majid,
DutraClarke Marina,
Lemieux Bryan,
Wencel Marie,
Solomon Benjamin D.,
Kimonis Virginia
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40363
Subject(s) - etiology , phenotype , cohort , medicine , association (psychology) , gene duplication , genetic heterogeneity , genetics , biology , psychology , gene , psychotherapist
The combination of vertebral, anal, cardiac, tracheo‐esophageal, renal and limb anomalies termed VACTERL association, also referred to as VATER, has been used as a clinical descriptor and more recently, a diagnosis of exclusion, for a specific group of phenotypic manifestations that have been observed to co‐occur non‐randomly. Though the causes remain elusive and poorly understood in most patients, VACTERL association is thought to be due to defects in early embryogenesis and is likely genetically heterogeneous. We present data on 36 patients diagnosed with VACTERL association in addition to describing the phenotypic diversity of each component feature. Unique cases in our cohort include a patient with a 498.59 kb microdeletion in the 16p11.2 region and another with a 215 kb duplication in the 3p25.2 region. Our findings expand upon the current understanding of VACTERL association and guide future research aimed at determining its etiology.