Search results for "Inheritance"
showing 10 items of 160 documents
INTU -related oral-facial-digital syndrome type VI: a confirmatory report
2018
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Whole-exome sequencing and SNP array identified compound heterozygous variants in the INTU gene, which encodes a protein involved in the posi…
Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis
2017
International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment …
Non-invasive stratification of hepatocellular carcinoma risk in non-alcoholic fatty liver using polygenic risk scores
2021
Background & Aims: Hepatocellular carcinoma (HCC) risk stratification in individuals with dysmetabolism is a major unmet need. Genetic predisposition contributes to non-alcoholic fatty liver disease (NAFLD). We aimed to exploit robust polygenic risk scores (PRS) that can be evaluated in the clinic to gain insight into the causal relationship between NAFLD and HCC, and to improve HCC risk stratification. Methods: We examined at-risk individuals (NAFLD cohort, n = 2,566; 226 with HCC; and a replication cohort of 427 German patients with NAFLD) and the general population (UK Biobank [UKBB] cohort, n = 364,048; 202 with HCC). Variants in PNPLA3-TM6SF2-GCKR-MBOAT7 were combined in a hepatic …
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
2020
Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…
Environmental epigenetics in zebrafish
2017
Abstract It is widely accepted that the epigenome can act as the link between environmental cues, both external and internal, to the organism and phenotype by converting the environmental stimuli to phenotypic responses through changes in gene transcription outcomes. Environmental stress endured by individual organisms can also enforce epigenetic variations in offspring that had never experienced it directly, which is termed transgenerational inheritance. To date, research in the environmental epigenetics discipline has used a wide range of both model and non-model organisms to elucidate the various epigenetic mechanisms underlying the adaptive response to environmental stimuli. In this rev…
Aplasia of the lacrimal and major salivary glands (ALSG). First case report in spanish population and review of the literature
2018
Aplasia of the lacrimal and the major salivary glands (ALSG) is a rare disorder with scarce cases described in the recent literature. The pattern of genetic inheritance is autosomal dominant with variable expressivity. A 40 years male patient was referred to the Oral and Maxillofacial Service at the Hospital Universitario de A Coruna diagnosed with complete agenesis of all salivary glands. Our case it is the first of ALSG syndrome in the Spanish literature. Imaging tests are necessary to confirm the lack of formation of salivary glands and alteration of lacrimal system. A mutation of FGF10 has been proposed as the responsible of the syndrome. The management of the lacrimal alteration depend…
Inheritance rights of life partnerships in recent doctrine of the Constitutional Court
2015
Hasta tiempos recientes el tema de los derechos sucesorios de los convivientes de hecho no había objeto de pronunciamientos por parte del Tribunal Constitucional. La STC 93/2013 y el ATC 280/2013 se han referido a esta cuestión, abriendo una forma de aproximación a la misma Until recently, the inheritance rights of life partnerships had not been subject to decisions of the Constitutional Court 93/2013 STC and 280/2013 ATC have made statements about giving a new approach to this issue
El administrador testamentario ¿venganza póstuma?
2019
El objeto del presente estudio es poner de manifiesto la escasa regulación en el Código civil de la figura del administrador testamentario. Esta figura ha sido creada con la intención de proteger el patrimonio del hijo menor o incapacitado del testador. Sin embargo, esta figura puede provocar graves problemas cuandola persona designada para el cargo de administrador testamentario mantiene malas relaciones con el progenitor del menor que ha sido expresamente excluido de la administración de aquellos bienes transmitidos a título gratuito. En este trabajo analizaremos las distintas soluciones planteadas por la jurisprudencia y la doctrina para aplicar analógicamente los regímenes de otras figu…
Protection of the surviving spouse in French law
2021
While French inheritance law has recently sought to give everyone more freedom to anticipate the transmission of their estate, it still guarantees to the children a reserved portion in his estate. This guarantees the deceased?s children a minimum share in his/her estate. However, the mechanisms protecting this reserve are subject to legal adjustments when spouses wish to organize the protection of the couple?s survivor, either by submitting to a conventional matrimonial regime or by giving themselves gifts that improve the legal succession of the spouse. This ensures a balance between the protection of the spouse and that of the compulsory heirs. Not seeming to be satisfied, several famous …
Liquidación de la sociedad de gananciales: el caso de la adjudicación forzosa de participaciones sociales de carácter ganancial a un solo cónyuge. Co…
2021
In a liquidation of community property, the rules for the partition of the inheritance are of suppletive application. Therefore, the sentence opts for a criterion of flexible interpretation of those rules, whose application will be subject to the objective entity of the property in question. Accordingly, when the only property to be shared between the spouses is constituted by set of shares of common nature, taking into account the special circumstances of the case, such shares could be awarded to one of the spouses with the obligation to compensate the other in money, even if it requests the sale of the shares in the public auction. To this end, the request would have to impede the possibi…