| Autor: |
Santoro G; Genetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy., Incoronato M; IRCCS, SYNLAB SDN, Via Gianturco 113, 80143 Napoli, Italy., Spagnoli E; Genetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy., Gabbiato I; UOC Genetica Epidemiologia Clinica, Azienda Ospedale Università di Padova, Via Giustiniani 2, 35128 Padova, Italy., Contini S; Genetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy., Piovan M; Genetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy., Ferrari M; IRCCS, SYNLAB SDN, Via Gianturco 113, 80143 Napoli, Italy., Lapucci C; Genetic Unit, SYNLAB Italia, Via B. L. Pavoni 18, Castenedolo, 25014 Brescia, Italy., Zuccarello D; UOC Genetica Epidemiologia Clinica, Azienda Ospedale Università di Padova, Via Giustiniani 2, 35128 Padova, Italy. |
| Abstrakt: |
To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the WAC gene (WW-domain-containing adaptor with coiled coil). In this clinical case report, we report a 5-year-old girl, born from non-consanguineous parents, with a 10p11.22p11.21 microdeletion. She presents clinical features that overlap with other patients described in the literature, such as dysmorphic traits, speech delay, and behavioural abnormalities (hyperactivity), even though the WAC gene is not involved in the microdeletion. Our results are the first to highlight that the deletion described here represents a contiguous gene syndrome that is enough to explain the distinct phenotype but partially overlaps with the previous cases reported in the literature, even though the same genes are not involved. In particular, in this study, we speculate about the role of the WAC gene that seems to be associated with normal motor development. In fact, we found that our patient is the only one described in the literature with a large deletion in the 10p11.22p11.21 region without the involvement of the WAC gene deletion, and, interestingly, the patient did not have motor delay. |
