We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males, without any specific clinical findings. Two point
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28
β Scribed by Hamel, Ben C. J.; Kremer, Hannie; Swaay, Eveline Wesby-van; van den Helm, Bellinda; Smits, Arie P. T.; Oostra, Ben A.; Ropers, Hans-Hilger; Mariman, Edwin C. M.
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 26 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
W e report on a family in which nonsyndromal mild to moderate mental retardation segregates as an X-linked trait (MRX41). T w o point linkage analysis demonstrated linkage between the disorder and marker DXS3 in Xq21.33 with a lod score of 2.56 at 0 = 0.0 and marker DXSllO8 in Xq28 with a lod score of 3.82 at 0 = 0.0. Multipoint linkage analysis showed that the odds for a location of the gene in Xq28 vs Xq21.33 are 1OO:l. This is the fourth family with nonspecific X-linked mental retardation with Xq28-qter as the most likely gene localization.
π SIMILAR VOLUMES
Nonspecific X-linked mental retardation is a heterogeneous condition consisting of nonsyndromal mental retardation in males. It is caused by mutation in one of several genes on the X chromosome (MRX genes). Here we report on the localization of a presumptive MRX gene to chromosomal region Xq24-q26 i
A genetic linkage study was performed on a large four-generation family with variable nonspecific X-linked mental retardation (MRX16), speech abnormalities, and retardation of all milestones. Significant linkage was found in the Xq28 region with loci DXS52, DXS15, BGN, and DXS1108 with maximum LOD s
Families with mentally retarded males found to be negative for FRAXA and FRAXE mutations are useful in understanding the genetic basis of X-linked mental retardation. According to the most recent data (updated to 1999), 69 MRX loci have been mapped and 6 genes cloned. Here we report on a linkage stu