A5008070566- Genomic variations and chromosomal abnormalities
- Retinal Development and Disorders
- Prenatal Screening and Diagnostics
- Glaucoma and retinal disorders
- Ocular Diseases and Behçet’s Syndrome
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Retinal Diseases and Treatments
- Corneal surgery and disorders
- Congenital heart defects research
- Retinal and Optic Conditions
- Hearing, Cochlea, Tinnitus, Genetics
- Corneal Surgery and Treatments
- Genomics and Rare Diseases
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Autism Spectrum Disorder Research
- Fetal and Pediatric Neurological Disorders
- Intraocular Surgery and Lenses
- Genetic Syndromes and Imprinting
- Congenital Ear and Nasal Anomalies
- Health and Medical Education
- Ocular Oncology and Treatments
- Health and Medical Research Impacts
- Retinopathy of Prematurity Studies
Hospital Clínico Universitario Lozano Blesa
2017-2019
McGill University
2003-2018
Hospital Universitario Virgen de la Arrixaca
2005-2017
Instituto Murciano de Investigación Biosanitaria
2015
Instituto de Investigación de Enfermedades Raras
2014-2015
Centre for Biomedical Network Research on Rare Diseases
2014-2015
Instituto de Salud Carlos III
2014-2015
McGill University Health Centre
2004-2013
National Institute on Population Medical Genetics
2010
Montreal Children's Hospital
2004-2008
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is toxic organophosphates that induce human paralysis severe axonopathy large neurons. Mutations in cause spastic paraplegia characterized by motor neuron degeneration. Here we identify childhood blindness seven families with degeneration,...
Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to identify the causal gene, describe phenotype delineate mutation spectrum in consanguineous Quebec arRP family. We performed Arrayed Primer Extension (APEX) technology exclude ∼500 mutations ∼20 genes. Homozygosity mapping [single nucleotide polymorphism (SNP) genotyping] identified 10 novel significant homozygous regions. next generation...
Mental impairment and instability of the CCG repeat at FRAXE is described in six kindreds. Cosegregation FRAXA was found within one these Cytogenetic expression shown to skip a generation when associated with reduction size expansion transmitted through male; however, general, transmission occurred females copy number increased from next. In respects behaviour paralleled that FRAXA. A relationship between non-specific mental strongly suggested by occurrence families more mentally impaired...
Mutations in the large <i>GPR98</i> gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that mutations cause a more severe, eventually lethal, phenotype males. We describe for first time two male with USH2 novel mutations. Clinical characterization of patient his affected sister revealed typical both. may excluded from systematic investigation previous studies, proportion USH2C probably underestimated. should be considered both sexes.
Abstract CRX is a transcription factor required for activating the expression of many photoreceptor-neuron genes. may be mutated in three forms human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP). The pathogenic mechanism most cases likely dominant negative, with gain function. We report novel, complete homozygous deletion LCA. identified Lebanese family 3 affected LCA cases. proband was sequenced by NGS. Quantitative PCR, array...
To show the importance of using high-resolution chromosome analysis and FISH-technique for finding subtle chromosomal lesions in prenatal diagnosis specially when there are abnormal ultrasound findings.Ecographic examination fetus. GTG banded FISH subtelomeric probes on amniocytes.We report two cases with congenital diaphragmatic hernia (CDH) heart defects (CHDs) different deletions confirmed by FISH: del(8)(p23.1p23.1) del(15)(q26.1).These support evidence that regions 15q26.1 8p23.1 may...
The 10q26 deletion syndrome is a clinically heterogeneous disorder. most common phenotypic characteristics include pre‐ and/or postnatal growth retardation, microcephaly, developmental delay/intellectual disability and facial appearance consisting of broad nasal bridge with prominent nose, low‐set malformed ears, strabismus, thin vermilion the upper lip. In addition, limb cardiac anomalies as well urogenital are occasionally observed. this report, we describe three unrelated females terminal...
Very little is known about the phenotype of FRAXE-positive individuals and relation between genotype/phenotype genotype/cytogenetic expression. We describe three families with normal mildly affected a severely retarded male expressing fragility at FRAXE locus or presenting different expansions CGG triplet. In addition, we analyze mutation in sperm DNA from carrier handicapped daughter locus. Mental status highly variable and, although mild mental retardation observed most cases, several...
A partial monosomy 6q derived from a de novo (q15q21) deletion, was seen in an infant male with mental retardation, odd facies and feeding difficulties.
Two syndromes with abnormalities of the short arm chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for first time a patient both syndromes, resulting complex chromosomal rearrangement an inverted duplication 5p13.1-p14.2, deletion 5p14.2-pter, 5p12, characterized by array-CGH BAC clones. The showed phenotypic characteristics died at 3 months age as result cardiorespiratory failure, probably associated clinical severity syndrome. propose...
Abstract San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, well‐established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on Moroccan girl prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array‐CGH (105 K) defined breakpoints and size of imbalanced segments, deletion ∼2.27 Mb...
We describe a rare case of complete hydatidiform mole with twin live fetus (CHMTF) confirmed by histopathology, flow cytometry, and polymerase chain reaction techniques. No malformations were observed, fetal karyotype was normal β-human chorionic gonadotropin levels increased (>100,000 IU/ml). Once the patient had been informed risks, it decided to continue pregnancy, but termination pregnancy necessary at week 13 + 5 due maternal complications consisting hyperthyroidism, hypertension...
Abstract Intrachromosomal triplications are rare and can be mistaken for duplications. The majority of reported de novo, mostly involving chromosome 15q, have a middle inverted repeat. We report on the clinical, cytogenetic, molecular analyses patient with novel triplication 13q21.1–q21.33 secondary to familial duplication mild phenotypic effect in three generations. propositus was an 8‐year‐old boy referred because language delay mental retardation. His weight, height OFC were above 97th...
Abstract In a Spanish region with population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty‐three the males were fra(X) positive. Of these 44 362 or 12.1% unrelated. Family studies identified large number obligate carriers and women at risk being given genetic counseling including prenatal diagnostic information. Considering age fertility rate, 23 affected could be born to women. The prevention potential this...
Recent attention has focused on the geographic variation of dengue viruses, since major epidemies may follow introduction a new virus strain into susceptible populations. We cloned and sequenced very interesting Mexican isolate (200787/1983) which is antigenically unique by signature analysis with respect to all other dengue-2 topotype viruses. This also in biological behavior (neurotropism) epidemiological significance Mexico. The sequence information was compared that flaviviruses,...