Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association

Author:

Moreno Olga M.,Sánchez Ana I.,Herreño Angélica,Giraldo Gustavo,Suárez Fernando,Prieto Juan Carlos,Clavijo Ana Shaia,Olaya Mercedes,Vargas Yaris,Benítez Javier,Surallés Jordi,Rojas AdrianaORCID

Abstract

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics

Reference75 articles.

1. Alberti C, Cochella L. A framework for understanding the roles of miRNAs in animal development. Development. 2017;144(14):2548–59.

2. Alter BP, Rosenberg PS. VACTERL-H association and Fanconi anemia. Mol Syndromol. 2013;4(1–2):87–93.

3. Arafat M, Har-Vardi I, Harlev A, Levitas E, Zeadna A, Abofoul-Azab M, et al. Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. J Med Genet. 2017;54(9):633–9.

4. Auerbach AD. A test for Fanconi’s anemia. Blood. 1988;72(1):366.

5. Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Expanding the phenotype associated with 17q12 duplication: case report and review of the literature. Am J Med Genet A. 2013;161A(2):352–9.

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