Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.
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PMID:[Norrie syndrome (author's transl)]. 41 93

Norrie disease is a human X-linked recessive disorder of unknown etiology characterized by congenital blindness, sensory neural deafness and mental retardation. This disease gene was previously linked to the DXS7 (L1.28) locus and the MAO genes in band Xp11.3. We report here fine physical mapping of the obligate region containing the Norrie disease gene (NDP) defined by a recombination and by the smallest submicroscopic chromosomal deletion associated with Norrie disease identified to date. Analysis, using in addition two overlapping YAC clones from this region, allowed orientation of the MAOA and MAOB genes in a 5'-3'-3'-5' configuration. A recombination event between a (GT)n polymorphism in intron 2 of the MAOB gene and the NDP locus, in a family previously reported to have a recombination between DXS7 and NDP, delineates a flanking marker telomeric to this disease gene. An anonymous DNA probe, dc12, present in one of the YACs and in a patient with a submicroscopic deletion which includes MAOA and MAOB but not L1.28, serves as a flanking marker centromeric to the disease gene. An Alu-PCR fragment from the right arm of the MAO YAC (YMAO.AluR) is not deleted in this patient and also delineates the centromeric extent of the obligate disease region. The apparent order of these loci is telomere ... DXS7-MAOA-MAOB-NDP-dc12-YMAO.AluR ... centromere. Together these data define the obligate region containing the NDP gene to a chromosomal segment less than 150 kb.
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PMID:The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3. 130 Nov 61

A 2-month-old male infant was found to have Norrie's disease. The clinical presentation and detailed histological features diagnostic of the disease are discussed. This is the first authentic, histologically proven case of Norrie's disease from India. The absence of hearing loss and mental retardation at the time of presentation at the early stage of infancy and the fact that the case was sporadic do not detract from the diagnosis. However the child at the age of one year developed hearing loss.
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PMID:Norries disease. 146 51

Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.
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PMID:Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report. 193 7

Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bilateral profound sensorineural hearing loss, blindness, and mental retardation are described. The inner ears showed marked atrophy of the stria vascularis, severe degeneration of hair cells and cochlear neurons, and connective tissue proliferation in the spiral ganglion, osseous spiral lamina, and walls of the membranous vestibular labyrinth. The eyes showed detached retinae, dense proliferation of fibrillary glial cells in the retina and vitreous, severe atrophy of the optic nerves, and degenerative hyalinization of blood vessels. This case is the first published report of the histopathology of the inner ear in Norrie's disease.
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PMID:Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration). 234 94

Developmental progress, hearing, and dysmorphic features were monitored prospectively in eight babies with Norrie's disease (an X linked form of congenital blindness believed to be associated with mental retardation, regression, sensorineural deafness, and dysmorphic features) and in six congenitally blind peers during their preschool years. No evidence of sensorineural deafness or dysmorphology was found in the group with Norrie's disease. No significant difference in the rate of developmental progress occurred between the two groups. All 14 children showed continuing developmental progress and in 10 this was at a normal or superior rate. Two cases and two controls showed slowing in their rate of progress; in both groups a suboptimal developmental climate had prevailed and may have been contributory. The emphasis on serious and progressive associated disabilities in past reports has led to considerable distress for families of children with this disease. Our study suggests that these anxieties may often be illfounded. Parental depression constrains development, particularly when a baby is blind. More optimistic counselling with developmental guidance is recommended for children who are not overtly retarded in infancy until the long term developmental perspective of this disease is further clarified.
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PMID:Norrie's disease: a prospective study of development. 260 18

A family having one member with Norrie's disease, X-linked retinal dysplasia associated with hearing loss and mental retardation, was studied using DNA markers. The DNA markers were used to try and confirm the diagnosis of Norrie's disease by detecting a deletion of the X chromosome. Linkage analysis using the polymorphic DNA markers was performed and this allowed more accurate determination of the carrier status of two sisters of the affected boy than by empiric risk calculation. The advantage of multiple polymorphic DNA markers for linkage analysis is illustrated.
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PMID:A genetic linkage study of a family with Norrie's disease. 325 38

Two sibships, each with two affected males but no other affected family members, are described. All four patients at birth had small eyes with white masses visible behind clear lenses. Support for a diagnosis of Norrie's disease lies in the probable mental retardation and sudden death of one child and mental retardation in the other in one of the families, and strong support in the sensorineural deafness in one child in the other family. A necropsy was performed on the dead child. Both eyes showed the retinae to be totally non-attached. The optic nerves were thin. If the diagnosis is Norrie's disease (highly probable), the birth of the second affected child in each family supports the postulate of a mutation in the X chromosome of a germ cell of a maternal grandparent or an earlier maternal ancestor, no previous member of the family having been affected. That implies a 50% risk of the disease in future male siblings and a 50% risk of the carrier state in female sibs. When only one child is affected, the explanation could also be a mutation in that individual. Given Norrie's disease, we have calculated a mutation rate of 3.9 per million chromosomes in the Scottish population--remarkably similar to the mutation rates calculated for many dominant diseases. A diagnosis of autosomal recessive non-attachment of retina implies a 25% risk to later siblings.
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PMID:Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency. 396 31

Norrie's disease, or congenital progressive oculo-acoustico-cerebral degeneration, is a rare X-linked recessive syndrome of retinal malformation, deafness, and mental retardation and/or deterioration. The natural history of the disorder in two families with five affected males, four living and one deceased, is described. The histopathology of two patients, one from each family, is reported. Differential diagnosis, treatment, and genetic counseling are discussed.
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PMID:Norrie's disease: a study of two families. 406 10

The hereditary cases of microphthalmia in the mentally retarded are not all of the partially sex-linked type as has hitherto been stated. A survey is given of published cases of dominant, autosomal recessive and sex-linked recessive pedigrees with the coincidence of microphthalmia and mental retardation. The common misconception of Norrie's disease being regraded as microphthalmia or hereditary corneal dystrophy instead of phthisis is noted. Present knowledge of chromosomal aberrations associated with microphthalmia is surveyed, and some of the syndromes and phenocopies in the mentally retarded in which microphthalmia may be found are reviewed. The survey, however, does not pretend to be a complete inventory of causes of microphthalmia in the mentally retarded.
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PMID:The heterogeneity of microphthalmia in the mentally retarded. 495 Sep 16


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