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Background: Infant acute lymphoblastic leukemia (ALL) has never occurred in families except for the ∼100% concordant cases in monozygous twins attributed to twin-to-twin metastases. We report the first kindred with infant ALL in non-twin siblings. The siblings were diagnosed with MLL-rearranged (MLL-R) ALL 26 months apart. The second affected sibling had an unaffected dichorionic monozygous co-twin. Both had fatal outcomes.
Procedures: Translocations were characterized by karyotype, FISH, multiplex FISH, and MLL breakpoint cluster region (bcr) Southern blot analysis. Breakpoint junctions and fusion transcripts were cloned by PCR. TP53 mutation and NADPH quinone oxidorecuctase 1 (NQO1) C609T analyses were performed, and pedigree history and parental occupations were ascertained. The likelihood of chance occurrence of infant ALL in non-twin siblings was computed based on a binomial distribution. Zygosity was determined by single nucleotide polymorphism (SNP) array.
Results: The translocations were not related or vertically transmitted. The complex karyotype of the proband's ALL had chromosome 2, 3, 4, and 11 abnormalities causing a 5'-MLL-AFF1-3' fusion and a non-productive rearrangement of 3'MLL with a chromosome 3q intergenic region. The affected twin's ALL exhibited a simple t(4;11). The complex karyotype of the proband's ALL suggested a genotoxic insult, but no exposure was identified. There was no germline TP53 mutation. The NQO1 C609T risk allele was absent. The likelihood of infant ALL occurring in non-twin siblings by chance alone is one in 1.198 × 10(9) families.
Conclusions: Whether because of a deleterious transplacental exposure, novel predisposition syndrome, or exceedingly rare chance occurrence, MLL-R infant ALL can occur in non-twin siblings. The discordant occurrence of infant ALL in the monozygous twins was likely because they were dichorionic.
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http://dx.doi.org/10.1002/pbc.25957 | DOI Listing |
J Affect Disord
November 2024
Brain and Mind Centre, The University of Sydney, Sydney, Australia.
Objectives: We examined associations between polygenic risk scores (PRS) for depression (PRS-MDD), psychosis (PRS-SCZ), bipolar disorders (PRS-BD) and neuroticism (PRS-NEU) and (i) help-seeking, and (ii) new onset cases of full-threshold mood or psychotic disorders in youth.
Methods: Help-seeking for mental health problems was assessed by self-report and mood and psychotic disorders were identified using the Composite International Diagnostic Interview. A principal component analysis of the four selected PRS identified two dimensions (BD-SCZ; MDD-NEU) that accounted for 69.
BMC Public Health
November 2024
Department of Nutrition, School of Public Health, Iran University of Medical Sciences, Tehran, Iran.
Background: Familial dietary intake can be influenced by both genetic and environmental factors; the current study aimed to examine the role of these two factors on dietary intake by investigating the resemblance in energy, nutrient, and food group intake among spouses and siblings in twin and family-based studies.
Methods: The online literature databases, including PubMed, Scopus, Web of Science, and Cochrane Library were systematically searched up to September 2024. The pooled correlation coefficient (r) of studies was calculated using Fisher's z and standard error (SE) of z's of all studies and our final results were reported in six groups including non-twin siblings, monozygotic (MZ) twins, dizygotic (DZ) twins, all-twins, all siblings, and spouse.
Yonsei Med J
November 2024
Department of Radiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Purpose: This study aimed to determine whether genetic factors affect the location of dilated perivascular spaces (dPVS) by comparing healthy young twins and non-twin (NT) siblings.
Materials And Methods: A total of 700 healthy young adult twins and NT siblings [138 monozygotic (MZ) twin pairs, 79 dizygotic (DZ) twin pairs, and 133 NT sibling pairs] were collected from the Human Connectome Project dataset. dPVS was automatically segmented and normalized to standard space.
Commun Biol
September 2024
Magnetoencephalography (MEG) Lab, The Norman Fixel Institute of Neurological Diseases, Gainesville, FL, USA.
Cognitive, behavioral, and disease traits are influenced by both genetic and environmental factors. Individual differences in these traits have been associated with graph theoretical properties of resting-state networks, indicating that variations in connectome topology may be driven by genetics. In this study, we establish the heritability of global and local graph properties of resting-state networks derived from functional MRI (fMRI) and magnetoencephalography (MEG) using a large sample of twins and non-twin siblings from the Human Connectome Project.
View Article and Find Full Text PDFJ Pharm Bioallied Sci
July 2024
Intern, Rural Dental College, PMT-PIMS, Loni, Maharashtra, India.
Objectives: This study aimed to assess the lip prints of Indian twins and non-twin siblings to evaluate the existence of heredity in the lip prints of these individuals.
Materials And Methods: The study employed a blind, cross-sectional, quantitative approach with an inductive method and extensive direct observation. The sample consisted of 30 twins and 30 non-twin siblings, divided into three groups based on gender with 10 subjects in each subgroup.
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