title: 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.
abstract: 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.
authors.affiliation: Dept. of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: Kremer
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: B
authors.initials: B
authors.lastname: van den Helm
authors.forename: W F
authors.initials: WF
authors.lastname: Arts
authors.forename: I J
authors.initials: IJ
authors.lastname: de Wijs
authors.forename: E A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
mesh_terms: D001259:Ataxia / Q000235:genetics; D001766:Blindness / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003638:Deafness / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000401:mortality; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
chemical_list: D005819:Genetic Markers