RESUMO
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.
Assuntos
Deleção Cromossômica , Humanos , Feminino , Pré-Escolar , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Síndrome , Fenótipo , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/patologiaRESUMO
We report an atypical case of granular corneal dystrophy recurrence after deep anterior lamellar keratoplasty. We describe clinical features, histopathological analysis of the lamellar graft specimen and DNA analysis results. The slit-lamp examination and histopathological findings from the graft specimen indicated the confinement of the typical deposits of granular corneal dystrophy deep in the graft interface area. This localization is atypical, since in most cases recurrences in grafts tend to be initially superficial and situated in the epithelial or subepithelial corneal layers. Molecular genetic analysis revealed an already described mutation and a new intronic variant. The unusual localization and timing of this recurrence of granular corneal dystrophy after deep anterior lamellar keratoplasty suggests that corneal stromal keratocytes may play a role in the formation of granular deposits.
É relatado um caso atípico de recorrência de distrofia corneana granular após transplante lamelar anterior profundo. São descritas as características clínicas, a análise histopatológica do espécime do enxerto lamelar e os resultados de análises de DNA. O exame com lâmpada de fenda e a análise histopatológica do espécime do enxerto demonstram o confinamento dos depósitos típicos da distrofia corneana granular profundamente, na área de interface do enxerto. Esta localização é atípica, uma vez que, na maioria dos casos de recidivas em enxertos, estes tendem a ser no início localizados superficialmente, nas camadas epiteliais ou subepitelial da córnea. A análise genética molecular revelou uma mutação já descrita e uma nova variante intrónica. A localização incomum e o tempo de aparecimento da presente recorrência da distrofia corneana granular após transplante lamelar anterior profundo sugere que ceratócitos do estroma corneano possam desempenhar algum papel na formação dos depósitos granulares.