Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association
Moreno, Olga M. (Pontificia Universidad Javeriana)
Sanchez, Ana I. (Centro Medico Imbanaco de Cali)
Herreño, Angélica (Pontificia Universidad Javeriana)
Giraldo, Gustavo (Pontificia Universidad Javeriana)
Suarez, Fernando (Hospital Universitario de San Ignacio)
Prieto, Juan Carlos (Pontificia Universidad Javeriana)
Clavijo, Ana Shaia (Pontificia Universidad Javeriana)
Olaya, Mercedes (Hospital Universitario de San Ignacio)
Vargas, Yaris (Hospital Universitario de San Ignacio)
Benítez, Javier (CNIO: Centro Nacional de Investigaciones Oncologicas)
Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Rojas, Adriana (Pontificia Universidad Javeriana)
Universitat Autònoma de Barcelona

Data:	2020
Resum:	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.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Array-CGH ; Chromosomal microalterations ; Congenital malformations ; Copy-number variants ; Fanconi anemia ; VACTERL association
Publicat a:	Molecular Syndromology, Vol. 11 Núm. 5-6 (december 2020) , p. 271-283, ISSN 1661-8777

DOI: 10.1159/000510910
PMID: 33505230

13 p, 453.4 KB

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