ArticleAmerican journal of human genetics1992
Further localization of X-linked hydrocephalus in the chromosomal region Xq28.
Article in American journal of human genetics, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 54 citations in OpenAlex.
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.Journal of medical genetics · 2007Article
- Detection of L1 CAM mutation in a male child with mental retardation.Indian journal of clinical biochemistry : IJCB · 2004Article
- Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.Journal of medical genetics · 1997Article
- A gene for dominant nonspecific X-linked mental retardation is located in Xq28.American journal of human genetics · 1997Article
- A new mutation of the L1CAM gene in an X-linked hydrocephalus family.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 1996Article
- Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.Journal of medical genetics · 1996Article
- Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.Journal of medical genetics · 1996Article
- X linked hydrocephalus and MASA syndrome.Journal of medical genetics · 1996Review
- Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3.American journal of human genetics · 1994Article
- Refining the genetic location of the gene for X linked hydrocephalus within Xq28.Journal of medical genetics · 1993Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked hydrocephalus (HSAS) is the most frequent genetic form of hydrocephalus. Clinical symptoms of HSAS include hydrocephalus, mental retardation, clasped thumbs, and spastic paraparesis. Recently we have assigned the HSAS gene to Xq28 by linkage analysis. In the present study we used a panel of 18 Xq27-q28 marker loci to further localize the HSAS gene in 13 HSAS families of different ethnic origins. Among the Xq27-q28 marker loci used, DXS52, DXS15, and F8C gave the highest combined lod scores, of 14.64, 6.53 and 6.33, respectively, at recombination fractions of .04, 0, and .05, respectively. Multipoint linkage analysis localizes the HSAS gene in the telomeric part of the Xq28 region, with a maximal lod score of 20.91 at 0.5 cM distal to DXS52. Several recombinations between the HSAS gene and the Xq28 markers DXS455, DXS304, DXS305, and DXS52 confirm that the HSAS locus is distal to DXS52. One crossover between HSAS and F8C suggests that HSAS gene to be proximal to F8C. Therefore, data from multipoint linkage analysis and the localization of key crossovers indicate that the HSAS gene is most likely located between DXS52 and F8C. This high-resolution genetic mapping places the HSAS locus within a region of less than 2 Mb in length, which is now amenable to positional cloning.
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1642232PMC1682663W1483909897What OpenQuestion holds
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