Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood
| Autor: | I.J. de Wijs, E.C.M. Mariman, B.C.J. Hamel, H.-H. Ropers, Erik A. Sistermans, H. Kremer, B. Van Den Helm, W.F.M. Arts |
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| Přispěvatelé: | Human genetics, Amsterdam Reproduction & Development (AR&D) |
| Jazyk: | angličtina |
| Rok vydání: | 1996 |
| Předmět: |
Genetic Markers
Male Candidate gene Pathology medicine.medical_specialty Ataxia Proteolipid protein 1 X Chromosome Hearing loss Genetic Linkage klinisch cytogenetisch en moleculair onderzoek naar de betrokken genen en hun functie [X-chromosomale mentale retardatie (XMR)] Neurological disorder Biology Deafness Blindness Central nervous system disease Intellectual Disability Genetics medicine Humans Child GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) Genetics (clinical) Cranial nerves Genetic Diseases Inborn Chromosome Mapping Syndrome medicine.disease Spinal cord Pedigree clinical cytogenetic and molecular studies into the relevant gene and their function [X-chromosomal mental retardation (XMR)] medicine.anatomical_structure Child Preschool Female medicine.symptom |
| Zdroj: | Human Genetics, 98, 5, pp. 513-517 Human Genetics, 98, pp. 513-517 Human Genetics, 98, 513-517 Human Genetics, 98(5), 513-517. Springer Verlag Kremer, H, Hamel, B C J, Van den Helm, B, Arts, W F M, De Wijs, I J, Sistermans, E A, Ropers, H H & Mariman, E C M 1996, ' Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood ', Human Genetics, vol. 98, no. 5, pp. 513-517 . https://doi.org/10.1007/s004390050250 |
| ISSN: | 0340-6717 |
| DOI: | 10.1007/s004390050250 |
| Popis: | Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM no. 301835). The disease has a fatal course due to the susceptibility of the patients to infections, especially of the respiratory tract. Clinical signs indicate impairment of the posterior columns, peripheral motor and sensory neurons and the second and eighth cranial nerves and/or their nuclei. The involvement of the posterior columns of the spinal cord is further suggested by the almost complete absence of myelinated fibers therein. We localized the responsible gene(s) to Xq21.33-q24 between DXS1231 and DXS1001 with a maximum lod score of 6.97. The proteolipid protein gene, which codes for two myelin proteins of the central nervous system and is located in this region, was considered as a candidate gene for this disorder. However, no mutations were found in the protein-coding part of this gene. |
| Databáze: | OpenAIRE |
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