%300046
Table of Contents
Cytogenetic location: Xq23-q24 Genomic coordinates (GRCh38): X:109,400,001-121,800,000
Lehrke (1974) described a nonspecific form of X-linked intellectual developmental disorder in a large kindred designated family 1. The pedigree was updated by Howard-Peebles and Roberts (1984). Affected males had lower verbal IQs than performance IQs. Several of the affected males had performance IQs above 80; however, because of the lower (12.3 points on average) verbal IQs, they were considered to be affected.
Gregg et al. (1996) mapped the gene for this form of X-linked intellectual developmental disorder, designated MRX23, to Xq23-q24 by linkage studies in the large kindred (family 1) of Lehrke (1974). Multipoint linkage analysis gave a maximum lod score of 6.7 between markers DXS1220 and DXS424. Obligate carrier females were considered unaffected; however, IQs were not determined for these individuals.
Mapping to the same region of Xq are other families of nonspecific X-linked mental retardation, designated MRX27 (Gedeon et al., 1996), MRX35 (300957), and MRX80 (Verot et al., 2003).
Gedeon, A. K., Glass, I. A., Connor, J. M., Mulley, J. C. Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. Am. J. Med. Genet. 64: 121-124, 1996. [PubMed: 8826461, related citations] [Full Text]
Gregg, R. G., Palmer, C ., Kirkpatrick, S., Simantel, A. Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24. Hum. Molec. Genet. 5: 411-414, 1996. [PubMed: 8852668, related citations] [Full Text]
Howard-Peebles, P. N., Roberts, S. F. X-linked mental retardation revisited. (Letter) Am. J. Med. Genet. 17: 95-99, 1984. [PubMed: 6711606, related citations] [Full Text]
Lehrke, R. G. X-linked mental retardation and verbal disability. Birth Defects Orig. Art. Ser. X (1): 1-100, 1974.
Verot, L., Alloisio, N., Morle, L., Bozon, M., Touraine, R., Plauchu, H., Edery, P. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. Am. J. Med. Genet. 122A: 37-41, 2003. [PubMed: 12949969, related citations] [Full Text]
Alternative titles; symbols
ORPHA: 777; DO: 0112049;
Cytogenetic location: Xq23-q24 Genomic coordinates (GRCh38): X:109,400,001-121,800,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| Xq23-q24 | Intellectual developmental disorder, X-linked 23 | 300046 | X-linked | 2 |
Lehrke (1974) described a nonspecific form of X-linked intellectual developmental disorder in a large kindred designated family 1. The pedigree was updated by Howard-Peebles and Roberts (1984). Affected males had lower verbal IQs than performance IQs. Several of the affected males had performance IQs above 80; however, because of the lower (12.3 points on average) verbal IQs, they were considered to be affected.
Gregg et al. (1996) mapped the gene for this form of X-linked intellectual developmental disorder, designated MRX23, to Xq23-q24 by linkage studies in the large kindred (family 1) of Lehrke (1974). Multipoint linkage analysis gave a maximum lod score of 6.7 between markers DXS1220 and DXS424. Obligate carrier females were considered unaffected; however, IQs were not determined for these individuals.
Mapping to the same region of Xq are other families of nonspecific X-linked mental retardation, designated MRX27 (Gedeon et al., 1996), MRX35 (300957), and MRX80 (Verot et al., 2003).
Gedeon, A. K., Glass, I. A., Connor, J. M., Mulley, J. C. Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. Am. J. Med. Genet. 64: 121-124, 1996. [PubMed: 8826461] [Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<121::AID-AJMG20>3.0.CO;2-O]
Gregg, R. G., Palmer, C ., Kirkpatrick, S., Simantel, A. Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24. Hum. Molec. Genet. 5: 411-414, 1996. [PubMed: 8852668] [Full Text: https://doi.org/10.1093/hmg/5.3.411]
Howard-Peebles, P. N., Roberts, S. F. X-linked mental retardation revisited. (Letter) Am. J. Med. Genet. 17: 95-99, 1984. [PubMed: 6711606] [Full Text: https://doi.org/10.1002/ajmg.1320170104]
Lehrke, R. G. X-linked mental retardation and verbal disability. Birth Defects Orig. Art. Ser. X (1): 1-100, 1974.
Verot, L., Alloisio, N., Morle, L., Bozon, M., Touraine, R., Plauchu, H., Edery, P. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. Am. J. Med. Genet. 122A: 37-41, 2003. [PubMed: 12949969] [Full Text: https://doi.org/10.1002/ajmg.a.20221]
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