Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association
| Autor: | Ana Shaia Clavijo, Angélica Herreño, Juan Carlos Prieto, Adriana Rojas, Yaris Vargas, Ana Isabel Sánchez, Olga Moreno, Fernando Suárez, Jordi Suralles, Javier Benítez, Mercedes Olaya, Gustavo Giraldo |
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| Rok vydání: | 2020 |
| Předmět: |
0303 health sciences
Pathology medicine.medical_specialty business.industry 030305 genetics & heredity Karyotype Tracheoesophageal fistula Gene mutation medicine.disease VACTERL association 03 medical and health sciences Anal atresia Fanconi anemia Atresia Genetics medicine Original Article Copy-number variation business Genetics (clinical) 030304 developmental biology |
| Zdroj: | Mol Syndromol |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000510910 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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