Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
| Autor: | Valentina Gatta, Silvia Carinci, Ivana Antonucci, Gabriele Lisi, Elisena Morizio, Stefano Tumini, Melissa Alfonsi, Giuseppe Calabrese, Chiara Palka, Liborio Stuppia, Pierluigi Lelli Chiesa |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Heart Defects
Congenital Male Pathology medicine.medical_specialty Ubiquitin-Protein Ligases Limb Deformities Congenital Anal Canal Tracheoesophageal fistula Biology Gene mutation Kidney 03 medical and health sciences Esophagus Scrotum Genetics medicine Humans Molecular Biology Genetics (clinical) Genetic Association Studies 030304 developmental biology Azoospermia 0303 health sciences Comparative Genomic Hybridization Chromosomes Human Y 030305 genetics & heredity Uncertainty Shawl scrotum Infant Proteins medicine.disease VACTERL association Spine Trachea Anal atresia medicine.anatomical_structure Atresia medicine.symptom Chromosome Deletion |
| Zdroj: | Cytogenetic and genome research. 158(3) |
| ISSN: | 1424-859X |
| Popis: | VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in infertile men with severe oligozoospermia or azoospermia. Herein, we discuss the possible explanation for this unusual genotype-phenotype correlation. We suggest that the deletion of the BPY2 (previously VCY2) gene, located in the AZFc region and involved in spermatogenesis, contributed to the genesis of the phenotype. In fact, BPY2 interacts with a ubiquitin-protein ligase, involved in the SHH pathway which is known to be implicated in the genesis of VACTERL association. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|