Swaminathan B.,University of the Basque Country |
Matesanz F.,Institute Parasitologia y Biomedicina Lopez Neyra |
Cavanillas M.L.,Hospital Clinico S Carlos |
Alloza I.,University of the Basque Country |
And 12 more authors.
Journal of Neuroimmunology | Year: 2010
A recent meta-analysis of genome-wide association screens coupled to a replication exercise in a combined US/UK collection led to the identification of 4 single nucleotide polymorphisms (SNPs) in three gene loci, i.e. TNFRSF1A, CD6 and IRF8, as novel risk factors for multiple sclerosis with genome-wide level of significance. In the present study, using a combined all-Spain collection of 2515 MS patients and 2942 healthy controls, we demonstrate significant association of rs17824933 in CD6 (P CMH=0.004; OR=1.14; 95% CI 1.04-1.24) and of rs1860545 in TNFRSF1A (P CMH=0.001; OR=1.15; 95% CI 1.06-1.25) with MS, while the low-frequency coding non-synonymous SNP rs4149584 in TNFRSF1A displayed a trend for association (P CMH=0.062; OR=1.27; 95% CI 0.99-1.63). This data reinforce a generic role for CD6 and TNFRSF1A in susceptibility to MS, extending to populations of southern European ancestry. © 2010 Elsevier B.V.
Garcia-Garcia G.,Institute Investigacian Sanitaria IIS La Fe |
Aparisi M.J.,Institute Investigacian Sanitaria IIS La Fe |
Jaijo T.,Institute Investigacian Sanitaria IIS La Fe |
Jaijo T.,CIBER ISCIII |
And 16 more authors.
Orphanet Journal of Rare Diseases | Year: 2011
Background: Usher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing impairment and retinitis pigmentosa (RP). Among the three genes implicated, mutations in the USH2A gene account for 74-90% of the USH2 cases. Methods. To identify the genetic cause of the disease and determine the frequency of USH2A mutations in a cohort of 88 unrelated USH Spanish patients, we carried out a mutation screening of the 72 coding exons of this gene by direct sequencing. Moreover, we performed functional minigene studies for those changes that were predicted to affect splicing. Results: As a result, a total of 144 DNA sequence variants were identified. Based upon previous studies, allele frequencies, segregation analysis, bioinformatics' predictions and in vitro experiments, 37 variants (23 of them novel) were classified as pathogenic mutations. Conclusions: This report provide a wide spectrum of USH2A mutations and clinical features, including atypical Usher syndrome phenotypes resembling Usher syndrome type I. Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in USH2A are responsible for 76.1% of USH2 disease in patients of Spanish origin. © 2011 Garcia-Garcia et al; licensee BioMed Central Ltd.
PubMed | Hospital General Of Mexico Eduardo Liceaga, Universidad Michoacana de San Nicolás de Hidalgo, Servicio de Genetica and Laboratorio Central Of Patologia Clinica
Type: Journal Article | Journal: Cirugia y cirujanos | Year: 2014
Von Willebrand disease is an inherited disease in which the structure, function, and concentration of von Willebrand factor are altered, as well as the platelet von Willebrand factor endothelium interaction. In Mexico there are no epidemiological records of the disease. Only a few isolated studies have been reported from the clinical and hematological standpoint.We studied 155 Mexican Mestizos: 75 with presumptive diagnosis of von Willebrand disease, 15 with suspected diagnosis ofhemophilia A and 65 healthy donors (controls). Basic coagulation tests, special tests and classification test (analysis of multimeric composition) were carried out.There were 15 patients with clinical diagnosis of hemophilia A, 75 patients with suspected von Willebrand disease of which 50 were diagnosed as the following types and subtypes: Type 1 (62%), Type 2 (22%) [subtypes: 2A (14%), 2B (2%), and 2N (6%)] and Type 3 (16%).It has been reported that analysis of von Willebrand factor is a method that meets the characteristics for the diagnosis of von Willebrand disease. It is necessary to implement this methodology to study and improve the specific diagnoses.
PubMed | Servicio de Patologia Oncologica, Servicio de Genetica and Servicio de Cirugia Oncologica
Type: | Journal: Cirugia y cirujanos | Year: 2016
Androgen insensitivity syndrome is an X-linked disorder, and is characterised by a female phenotype in a chromosomally male individual. It usually occurs in puberty with primary amenorrhoea or as an inguinal tumour in a female infant. In recent years, it is often also diagnosed in fertility clinics in adulthood.The case is presented of a pure seminoma in a woman with the reference diagnosis of inguinal hernia.A 53 year old woman, who was operated on in 2014 due to a nodule in left groin. Androgen insensitivity syndrome was corroborated, and histopathology reported it as a right testicular seminoma.The importance of early diagnosis is discussed, highlighting the consequences of misdiagnosis, and question whether these patients have been adequately treated in the past. The risk of malignant transformation of an undescended testicle increases with age, thus gonadectomy should be performed after puberty, and in some cases hormone replacement therapy.
Hernandez-Caballero M.E.,Laboratorio Of Morfologia Celular Y Molecular |
Miranda-Duarte A.,Servicio de Genetica |
Escobar-Cedillo R.E.,Electromiografia Y Distrofia Muscular |
Villegas-Castrejon H.,Laboratorio Of Morfologia Celular Y Molecular
Revista de Neurologia | Year: 2010
Muscular dystrophies are a heterogeneous group of hereditary diseases characterized by loss of muscle and weakness of non neurogenic origin. They are caused by mutations in one or more genes involved in the formation of muscle cells. The discovery of several proteins in the muscle began with the discovery of dystrophin, 130 years after the clinical description of muscular dystrophy. Currently, due to a better understanding of the biology of normal and diseased muscle, has achieved a classification at the molecular level of different types of muscular dystrophies, according to the protein that is affected. This has been particularly important for limb girdle muscular dystrophies, which present clinical features that can lead to confusion with Duchenne muscular dystrophy. Moreover, in recent years has encouraged the development of therapies in the near future could provide a solution for restoring the function of the muscle fiber. © 2010 Revista de Neurología.
Munoz-Pedroza L.A.,Asociacion Leonesa de Distrofia Muscular S.A. Leon |
Arenas-Sordo M.L.,Servicio de Genetica
Acta Otorrinolaringologica Espanola | Year: 2013
Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral.We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a diagnosis of microtia treated in the Genetics Department.There was no significant difference in the sex of the individuals involved. The mean age was 6.97 years, with a range of 1 to 52 years. We founded positive inbreeding in 14 patients and consanguinity in 1 case. There was a family history of microtia in 37 cases. The most frequent malformations, besides microtia, were facial, costo-vertebral, limb, cardiac, genital, eye and other defects.Patients had a high percentage of family history, which could suggest an autosomal dominant inheritance with reduced penetrance. © 2013 Elsevier España, S.L.
PubMed | Laboratorio Of Neurofisiologia Cognoscitiva and Servicio de Genetica
Type: Journal Article | Journal: Gaceta medica de Mexico | Year: 2014
In this paper we studied the central auditory pathway (CAP) from an anatomical, physiological and neurochemical standpoint, from the inner ear, brainstem, thalamus to the temporal auditory cortex. The characteristics of the spiral ganglion of Corti, auditory nerve, cochlear nuclei, superior olivary complex, lateral lemniscus, inferior colliculus, medial geniculate body, and auditory cortex, including the auditory efferent pathway, are given. CAP is described as the electrical impulses, travelling through axons, allowing ions to enter a neuron and vesicles with neurotransmitters (NT) and then released into synaptic space. The NT changes the functioning of the cells; when attached to specific receptors on the next nerve cell, NT-receiver union causes input of ions through Gap sites, resulting in a postsynaptic potential that is spread over all CAP. In addition, the effects of the NT are not limited to the transmission, but as trophic agents that promote the formation of new neural networks. Even the anatomy, physiology, neurochemical aspects, and the different types of synapses are not fully understood to comprehend the organization of the CAP, but remain under investigation because of the relevance for the treatment of various central auditory disorders.
Gonzalez-Huerta N.C.,Servicio de Genetica |
Valdes-Miranda J.M.,National University of Costa Rica |
Perez-Cabrera A.,National University of Costa Rica |
Pacheco-Cuellar G.,National University of Costa Rica |
And 2 more authors.
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2010
Objective.To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene. Study design.Case report. Results.We detected in a pregnant woman and her child the G
Camacho R.M.H.,Servicio de Genetica
Revista Mexicana de Pediatria | Year: 2010
The congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder due to a mutation of the gen of 21-hydroxilase. In the deficiency of this enzyme the cortisol is reduced and there is an excess of androgens and low level of aldosterone. In this report a special mention of the clinical and diagnostic features in this disease is done and our experience in the management of 22 children in the last 16 years. Conclusions. Mean time elapsing before diagnosis and mortality by CAH are greater in males than in females. Short stature is common in patients with classic congenital adrenal hyperplasia.
PubMed | Servicio de Genetica
Type: | Journal: Molecular vision | Year: 2012
Presently, 22 genes have been described in association with autosomal dominant retinitis pigmentosa (adRP); however, they explain only 50% of all cases, making genetic diagnosis of this disease difficult and costly. The aim of this study was to evaluate a specific genotyping microarray for its application to the molecular diagnosis of adRP in Spanish patients.We analyzed 139 unrelated Spanish families with adRP. Samples were studied by using a genotyping microarray (adRP). All mutations found were further confirmed with automatic sequencing. Rhodopsin (RHO) sequencing was performed in all negative samples for the genotyping microarray.The adRP genotyping microarray detected the mutation associated with the disease in 20 of the 139 families with adRP. As in other populations, RHO was found to be the most frequently mutated gene in these families (7.9% of the microarray genotyped families). The rate of false positives (microarray results not confirmed with sequencing) and false negatives (mutations in RHO detected with sequencing but not with the genotyping microarray) were established, and high levels of analytical sensitivity (95%) and specificity (100%) were found. Diagnostic accuracy was 15.1%.The adRP genotyping microarray is a quick, cost-efficient first step in the molecular diagnosis of Spanish patients with adRP.