Search results for "Sibling"
showing 10 items of 123 documents
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting…
2020
Abstract Background PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of the subcortical maternal complex proteins are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders with multi-locus imprinting disturbance. While the involvement of PADI6 in infertility is well demonstrated, its role in imprinting disorders is less well established. Results We have identified by whole-exome sequencing analysis four cases of Beckwith-Wiedemann syndrome with multi-locus imprintin…
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
2019
Abstract Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of two patients with CMT4H was studied, performing genetic testing with a panel of genes and analysing FGD4 mRNA expression by quantitative PCR. Results Two novel FGD4 variants (c.514delG and c.2211dupA) were identified in two mildly affected Spanish siblings with CMT4H, and with disease onset in late adolescence/adulthood (one of them remaining asymptomatic at 20). On examination, foot deformity was observed without weakness or sensory i…
Congenital prearticular temporo-mandibular ankylosis in two siblings
1990
Summary A report of congenital ankylosis of the temporo-mandibular joint has only very rarely been published. The existence of this entity has been met with great scepticism and therefore believed to be due to perinatal trauma and subsequent development of the ankylosis. However, publications are now available of observations at birth after an uneventful pregnancy and spontaneous delivery. Our cases are the first publication of congenital TMJ ankylosis in two siblings, although there are hints in the histories in two other papers that a sibling may have suffered from the same condition. We discuss the hypothesis that the potential to ankylose in the temporomandibular area is a congenital di…
Assessing Reliability, Heritability and General Cognitive Ability in a Battery of Cognitive Tasks for Laboratory Mice
2005
This report includes the first sibling study of mouse behavior, and presents evidence for a heritable general cognitive ability (g) factor influencing cognitive batteries. Data from a population of male and female outbred mice (n = 84), and a replication study of male sibling pairs (n = 167) are reported. Arenas employed were the T-maze, the Morris water maze, the puzzle box, the Hebb-Williams maze, object exploration, a water plus-maze, and a second food-puzzle arena. The results show a factor structure consistent with the presence of g in mice. Employing one score per arena, this factor accounts for 41% of the variance in the first study (or 36% after sex regression) and 23% in the second…
Does the sex of firstborn children influence subsequent fertility behavior? evidence from family reconstitution.
2006
According to recent studies in evolutionary anthropology, firstborn daughters influence both parity progression and sibling survival by acting as so-called helpers at the nest. Based on 534 sets of household data from family reconstitution, the current analysis fails to show that offspring sex had any direct impact on maternal fertility, sibling survivorship, birth spacing, or reproductive span. Instead, the results indicate that fertility decisions were heavily affected by proximate factors such as child mortality and gender preferences. Families who had experienced child death were swift to substitute the loss with another pregnancy—a phenomenon known as replacement strategy. Similarly, …
A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16
2008
As part of the International Multi-centre ADHD Gene (IMAGE) project we have completed an affected sibling pair study of 142 narrowly defined DSM-IV combined type ADHD proband-sibling pairs. We found suggestive linkage on chromosomes 9 and 16 with non-parametric multipoint peak LOD scores of 2.13 and 3.1 respectively. There have been several previous ADHD linkage scans. The UCLA study (Fisher et al. 2002; Ogdie et al. 2004; Ogdie et al. 2003), the Dutch study (Bakker et al. 2003), the German study (Hebebrand et al. 2006) and the MGH Study (Faraone et al., submitted) applied the affected sib pair (ASP) strategy; the Columbian study used extended pedigrees ascertained from a population isolate…
Mortality and health-related habits in 900 Finnish former elite athletes and their brothers.
2018
BackgroundThere is conflicting evidence on the associations between participation in vigorous sports, health habits, familial factors and subsequent mortality. We investigated all-cause mortality and health-related behaviour among former elite athletes and their brothers.MethodsThe mortality of Finnish male former elite athletes, who had represented Finland between 1920 and 1965 (n=900) and their age-matched brothers (n=900), was followed from the time when athlete started an elite athlete career until 31 December 2015. The age-adjusted HRs were calculated by a paired Cox proportional hazards model. In 2001, surviving participants (n=199 athletes and n=199 age-matched brothers) reported the…
Genetic elimination of known pheromones reveals the fundamental chemical bases of mating and isolation in Drosophila
1999
Overexpression of the UAS-tra transgene in Drosophila melanogaster females led to the complete elimination of their cuticular pheromones. According to current models of Drosophila behavior, these flies should induce no courtship. In fact, they are still attractive to conspecific males. Three classes of stimuli are shown to induce courtship, with different effects on male behavior: ( i ) known pheromones produced by control females, ( ii ) stimuli produced by living control and transgenic flies, and ( iii ) as-yet-undetermined pheromones present on both control and transgenic flies. Only the latter class of pheromones are required for mating. They appear to represent a layer of ancestral at…
Emotional–Behavioral Disorders in Healthy Siblings of Children with Neurodevelopmental Disorders
2020
Background and Objectives: Siblings of disabled children are more at risk of developing mental illnesses. More than 50 international studies show that about 8% of children and adolescents suffer from a mental disorder, which is almost always a source of difficulties both at the interpersonal level (in the family and with peers) and at school. Healthy siblings of children with disabilities are one of the groups most at risk for consequences in psychological health and well-being. As some authors suggest, siblings build their idea of &ldquo
Performance variability, impulsivity errors and the impact of incentives as gender-independent endophenotypes for ADHD
2010
Background:Attention-deficit hyperactivity disorder (ADHD) is one of the most common and highly heritable child psychiatric disorders. There is strong evidence that children with ADHD show slower and more variable responses in tasks such as Go/Nogo tapping aspects of executive functions like sustained attention and response control which may be modulated by motivational factors and/or state-regulation processes. The aim of this study was (1) to determine if these executive functions may constitute an endophenotype for ADHD; (2) to investigate for the first time whether known modulators of these executive functions may also be familial; and (3) to explore whether gender has an impact on thes…