Background: Renal and ureteric stones (RS) can form due to genetic, metabolic, environmental, and diet-hydration related factors. Studies have shown that patients with family history (FH) of RS have higher likelihood of recurrence.
Materials And Methods: We conducted a retrospective cross-sectional study on 114 pedigrees to investigate the impact of FH on recurrence of RS and examine patterns of inheritance. Results: Family history of renal stone disease was found in 42% of all patients. There was a significant increase of stone recurrence in RS patients with a positive FH (p=0.001). Seventy-one percent of patients with recurrent stones had at least one family member with RS. Interestingly, male penetrance was higher in RS recurrence, where a greater proportion of males had no FH of RS, indicating that there may be other factors involved as well. Conclusion: Family history in RS patients should be continuously explored for the possible underlying genetic influence, whilst keeping in mind the dietary habits of the family.
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http://dx.doi.org/10.7759/cureus.13464 | DOI Listing |
J Natl Cancer Inst
November 2024
Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Genet Sel Evol
September 2024
School of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia.
Background: The objective of this study was to introduce a genome-wide association study (GWAS) in conjunction with segregation analysis on monogenic categorical traits. Genotype probabilities calculated from phenotypes, mode of inheritance and pedigree information, are expressed as the expected allele count (EAC) (range 0 to 2), and are inherited additively, by definition, unlike the original phenotypes, which are non-additive and could be of incomplete penetrance. The EAC are regressed on the single nucleotide polymorphism (SNP) genotypes, similar to an additive GWAS.
View Article and Find Full Text PDFJ Med Genet
September 2024
Department of Opthalmology, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai 200000, China
Background: Variants in the are the leading cause of X-linked retinopathies (XLRPs). Further in-depth investigation is needed to understand the natural history.
Methods: Review of all case records, molecular genetic testing results, best-corrected visual acuity (BCVA), retinal imaging data (including fundus autofluorescence imaging and optical coherence tomography (OCT)), static visual field (VF) assessments and full-field electroretinogram.
Nature
August 2024
Lundbeck Foundation GeoGenetics Centre, Globe Institute, University of Copenhagen, Copenhagen, Denmark.
BMC Pediatr
March 2024
Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China.
Background: Biallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure. Currently, 5 individuals with LCCS3 were reported and 5 pathogenic variants in PIP5K1C were identified. Here, we reported the two fetuses in a Chinese pedigree who displayed multiple joint contractures and other congenital anomalies.
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