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1.
Eur J Hum Genet ; 21(4): 367-72, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23032112

ABSTRACT

Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis--based on either SNP mapping or full-genome sequencing--is a very useful tool in prenatal diagnostics of diseases.


Subject(s)
Genetic Linkage , Genome, Human , Genome-Wide Association Study , Intellectual Disability/diagnosis , Pedigree , Prenatal Diagnosis/methods , Adolescent , Child , Female , Genes, Recessive , Haplotypes , Humans , Intellectual Disability/genetics , Male , Polymorphism, Single Nucleotide , Pregnancy , Young Adult
2.
Pediatrics ; 120(5): e1355-8, 2007 Nov.
Article in English | MEDLINE | ID: mdl-17974728

ABSTRACT

We report the uncommon clinical course of tetanus in a completely immunized 14-year-old boy. His initial symptoms, which included a flaccid paralysis, supported a diagnosis of botulism. Preliminary mouse-test results with combined botulinum antitoxins A, B, and E, obtained from tetanus-immunized horses, backed this diagnosis. The change in his clinical course from paralysis to rigor and the negative, more specific, botulinum mouse test with isolated botulinum antitoxins A, B, and E, obtained from nonvaccinated rabbits, disproved the diagnosis of botulism. Tetanus was suspected despite complete vaccination. The final results of a positive mouse test performed with isolated tetanus antitoxin confirmed the diagnosis. Adequate treatment was begun, and the boy recovered completely.


Subject(s)
Tetanus/blood , Tetanus/diagnosis , Vaccination , Adolescent , Animals , Diagnosis, Differential , Humans , Male , Mice , Nervous System Diseases/blood , Nervous System Diseases/diagnosis , Nervous System Diseases/immunology , Tetanus/immunology , Tetanus Antitoxin/immunology
3.
Neuromuscul Disord ; 17(2): 157-62, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17129727

ABSTRACT

Limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi Myopathy are caused by mutations in the dysferlin gene. The phenotype of these allelic disease variants can vary considerably. We report on an adolescent female with a severe and rapidly progressing clinical course of LGMD2B which has been suggested by the muscle histopathology and Western blot and proven by mutation analysis in the Dysferlin gene. We detected a novel compound heterozygous mutation of which one affects the extracellular part of the protein. This is the first report on a mutation in this region of dysferlin and might explain the unusual phenotype of the patient.


Subject(s)
Codon, Nonsense/physiology , Leg/pathology , Membrane Proteins/genetics , Muscle Proteins/genetics , Muscle, Skeletal/pathology , Muscular Dystrophies, Limb-Girdle/genetics , Muscular Dystrophies, Limb-Girdle/pathology , Adolescent , Blotting, Western , DNA/biosynthesis , DNA/genetics , Dysferlin , Electrophoresis, Polyacrylamide Gel , Female , Heterozygote , Humans , Hypertrophy , Immunohistochemistry , Muscle Fibers, Skeletal/pathology , Muscle Fibers, Skeletal/ultrastructure , Phenotype
4.
Acta Neuropathol ; 110(3): 289-97, 2005 Sep.
Article in English | MEDLINE | ID: mdl-16025284

ABSTRACT

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is genetically and clinically distinct from classic spinal muscular atrophy (SMA1). It results from mutations in the gene encoding immunoglobulin mu-binding protein 2 (IGHMBP2) on chromosome 11q13. Patients develop distally pronounced muscular weakness and early involvement of the diaphragm, resulting in respiratory failure. Sensory and autonomic nerves are also affected at later stages of the disease. We investigated peripheral nerves, skeletal muscles and neuromuscular junctions (NMJ) ultrastructurally in five unrelated patients and three siblings with genetically confirmed SMARD1. In mixed motor and sensory nerves we detected Wallerian degeneration and axonal atrophy similar to the ultrastructural findings described in SMA1. Isolated axonal atrophy was evident in purely sensory nerves. All investigated NMJ of patients with SMARD1 were dysmorphic and lacked a terminal axon. Moreover, we also observed characteristics of neuropathies, such as abnormalities in myelination, that have not been described in spinal muscular atrophies so far. Based on these findings we conclude that impairment of IGHMBP2 function leads to axonal degeneration, abnormal myelin formation, and motor end-plate degeneration.


Subject(s)
Muscle, Skeletal/pathology , Muscular Atrophy, Spinal/pathology , Neuromuscular Junction/pathology , Peripheral Nerves/pathology , Respiratory Distress Syndrome, Newborn/pathology , Axons/pathology , Axons/ultrastructure , DNA-Binding Proteins/genetics , Female , Humans , Infant , Infant, Newborn , Male , Microscopy, Electron, Transmission , Motor Neurons/pathology , Motor Neurons/ultrastructure , Muscle, Skeletal/physiopathology , Muscle, Skeletal/ultrastructure , Muscular Atrophy, Spinal/complications , Muscular Atrophy, Spinal/physiopathology , Mutation/genetics , Nerve Fibers, Myelinated/pathology , Nerve Fibers, Myelinated/ultrastructure , Neuromuscular Junction/physiopathology , Neuromuscular Junction/ultrastructure , Neurons, Afferent/pathology , Neurons, Afferent/ultrastructure , Peripheral Nerves/physiopathology , Peripheral Nerves/ultrastructure , Respiratory Distress Syndrome, Newborn/etiology , Respiratory Distress Syndrome, Newborn/physiopathology , Transcription Factors/genetics , Wallerian Degeneration/pathology , Wallerian Degeneration/physiopathology
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