Publications by authors named "N Sobreira"
Article Synopsis
- The study investigates the genetic variance (variome) of the Turkish population, focusing on how admixture and consanguinity influence their genomic makeup related to diseases.
- Exome sequencing data from 773 affected individuals and 643 unaffected relatives revealed that Turkish genomes are closely related to Europeans, with two main subpopulations showing different levels of genetic mixing.
- The analysis identified that higher inbreeding coefficients and longer runs of homozygosity in affected individuals are linked to rare harmful genetic variants, emphasizing their role in hereditary diseases within this population.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for healthcare professionals. The 2023 AACR Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop.
View Article and Find Full Text PDFRing chromosome 17 and 17p13.3 deletion syndrome are phenotypically heterogeneous diseases with similar clinical features. The ring chromosome 17 phenotypic features range from the Miller-Dieker syndrome characterized by deletion of the PAFAH1B1 gene, lissencephaly, hypotonia, dysphagia, café au lait spots, and severe intellectual disability, to a milder phenotype characterized by microcephaly, seizures, delayed development, minor facial dysmorphic features, clinodactyly, short stature, café au lait spots, retinal flecking, and deletion of the YWHAE and CRK genes.
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- Hereditary spastic paraplegias are a group of disorders marked by lower limb spasticity, categorized as either isolated or symptomatic, with additional neurological complications.
- The study focused on identifying genetic causes in three consanguineous families from Punjab, using blood samples and exome sequencing to find rare homozygous variants linked to the disorders.
- Key findings included a deletion in SPG11 related to complex movement disorders and specific mutations in DDHD2 and AP4B1, highlighting the genetic diversity and complexity of hereditary spastic paraplegia conditions.
Article Synopsis
- Bladder exstrophy epispadias complex (BEEC) is a rare birth defect with unclear causes, though genetics may play a role, and newer sequencing technologies help pinpoint genetic factors.
- The study aimed to find rare genetic variants linked to bladder regeneration in 12 patients with BEEC, classifying their bladder function as either sufficient or insufficient.
- Out of 44 genes studied, the researchers discovered rare genetic variants in two genes among sufficient cases and seven variants across five genes in unsuspected cases, highlighting the potential genetic contributors to the condition.