Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72

Linkage analysis and clinical findings in a three-generation Sardinian family

S. Russo, F. Cogliati, F. Cavalleri, M. G. Cassitto, R. Giglioli, D. Toniolo, G. Casari, L. Larizza

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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 study performed on 20 subjects from a 4-generation Sardinian family segregating a non-specific X-linked recessive mental retardation (XLMR)(MRX72) associated with global delay of all psychomotor development. Five of 8 affected males have been tested for mental age, verbal and performance skills and behavioral anomalies; mental impairment ranged from mild to severe. Only minor anomalies were present in the affected subjects. Two-point linkage analysis based on 28 informative microsatellites spanning the whole X chromosome demonstrated linkage between the disorder and markers DXS1073 and F8c in Xq28 (maximum Lod score of 2.71 at θ = 0.00). Multipoint linkage analysis confirmed the linkage with a Z(max) of 3.0 at θ = 0.00 at DXS1073 and F8c. Recombination in an affected male at DXS1073 and F8c allowed us to delimit centromerically and telomerically the region containing the putative candidate gene. The region, where MRX72 maps, overlaps that of another MRX families previously mapped to Xq28, two of which harbored mutations in GDI. Involvement of this gene was excluded in our family, suggesting another MRX might reside in Xq28. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)376-382
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume94
Issue number5
DOIs
Publication statusPublished - Oct 23 2000

Fingerprint

X-Linked Mental Retardation
Guanine Nucleotide Dissociation Inhibitors
Genes
Lod Score
Mutation
Phentolamine
Mentally Disabled Persons
X Chromosome
Microsatellite Repeats
Genetic Recombination
Atkin syndrome

Keywords

  • MRX72
  • X-linked non-specific mental retardation
  • Xq28 mapping

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72 : Linkage analysis and clinical findings in a three-generation Sardinian family. / Russo, S.; Cogliati, F.; Cavalleri, F.; Cassitto, M. G.; Giglioli, R.; Toniolo, D.; Casari, G.; Larizza, L.

In: American Journal of Medical Genetics, Vol. 94, No. 5, 23.10.2000, p. 376-382.

Research output: Contribution to journalArticle

@article{a051c000e50b4e139129801910edbf64,
title = "Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family",
abstract = "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 study performed on 20 subjects from a 4-generation Sardinian family segregating a non-specific X-linked recessive mental retardation (XLMR)(MRX72) associated with global delay of all psychomotor development. Five of 8 affected males have been tested for mental age, verbal and performance skills and behavioral anomalies; mental impairment ranged from mild to severe. Only minor anomalies were present in the affected subjects. Two-point linkage analysis based on 28 informative microsatellites spanning the whole X chromosome demonstrated linkage between the disorder and markers DXS1073 and F8c in Xq28 (maximum Lod score of 2.71 at θ = 0.00). Multipoint linkage analysis confirmed the linkage with a Z(max) of 3.0 at θ = 0.00 at DXS1073 and F8c. Recombination in an affected male at DXS1073 and F8c allowed us to delimit centromerically and telomerically the region containing the putative candidate gene. The region, where MRX72 maps, overlaps that of another MRX families previously mapped to Xq28, two of which harbored mutations in GDI. Involvement of this gene was excluded in our family, suggesting another MRX might reside in Xq28. (C) 2000 Wiley-Liss, Inc.",
keywords = "MRX72, X-linked non-specific mental retardation, Xq28 mapping",
author = "S. Russo and F. Cogliati and F. Cavalleri and Cassitto, {M. G.} and R. Giglioli and D. Toniolo and G. Casari and L. Larizza",
year = "2000",
month = "10",
day = "23",
doi = "10.1002/1096-8628(20001023)94:5<376::AID-AJMG6>3.0.CO;2-A",
language = "English",
volume = "94",
pages = "376--382",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "5",

}

TY - JOUR

T1 - Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72

T2 - Linkage analysis and clinical findings in a three-generation Sardinian family

AU - Russo, S.

AU - Cogliati, F.

AU - Cavalleri, F.

AU - Cassitto, M. G.

AU - Giglioli, R.

AU - Toniolo, D.

AU - Casari, G.

AU - Larizza, L.

PY - 2000/10/23

Y1 - 2000/10/23

N2 - 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 study performed on 20 subjects from a 4-generation Sardinian family segregating a non-specific X-linked recessive mental retardation (XLMR)(MRX72) associated with global delay of all psychomotor development. Five of 8 affected males have been tested for mental age, verbal and performance skills and behavioral anomalies; mental impairment ranged from mild to severe. Only minor anomalies were present in the affected subjects. Two-point linkage analysis based on 28 informative microsatellites spanning the whole X chromosome demonstrated linkage between the disorder and markers DXS1073 and F8c in Xq28 (maximum Lod score of 2.71 at θ = 0.00). Multipoint linkage analysis confirmed the linkage with a Z(max) of 3.0 at θ = 0.00 at DXS1073 and F8c. Recombination in an affected male at DXS1073 and F8c allowed us to delimit centromerically and telomerically the region containing the putative candidate gene. The region, where MRX72 maps, overlaps that of another MRX families previously mapped to Xq28, two of which harbored mutations in GDI. Involvement of this gene was excluded in our family, suggesting another MRX might reside in Xq28. (C) 2000 Wiley-Liss, Inc.

AB - 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 study performed on 20 subjects from a 4-generation Sardinian family segregating a non-specific X-linked recessive mental retardation (XLMR)(MRX72) associated with global delay of all psychomotor development. Five of 8 affected males have been tested for mental age, verbal and performance skills and behavioral anomalies; mental impairment ranged from mild to severe. Only minor anomalies were present in the affected subjects. Two-point linkage analysis based on 28 informative microsatellites spanning the whole X chromosome demonstrated linkage between the disorder and markers DXS1073 and F8c in Xq28 (maximum Lod score of 2.71 at θ = 0.00). Multipoint linkage analysis confirmed the linkage with a Z(max) of 3.0 at θ = 0.00 at DXS1073 and F8c. Recombination in an affected male at DXS1073 and F8c allowed us to delimit centromerically and telomerically the region containing the putative candidate gene. The region, where MRX72 maps, overlaps that of another MRX families previously mapped to Xq28, two of which harbored mutations in GDI. Involvement of this gene was excluded in our family, suggesting another MRX might reside in Xq28. (C) 2000 Wiley-Liss, Inc.

KW - MRX72

KW - X-linked non-specific mental retardation

KW - Xq28 mapping

UR - http://www.scopus.com/inward/record.url?scp=0034706405&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034706405&partnerID=8YFLogxK

U2 - 10.1002/1096-8628(20001023)94:5<376::AID-AJMG6>3.0.CO;2-A

DO - 10.1002/1096-8628(20001023)94:5<376::AID-AJMG6>3.0.CO;2-A

M3 - Article

VL - 94

SP - 376

EP - 382

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 5

ER -