X‐linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region

Gendrot, Chantal; Ronce, Nathalie; Toutain, Annick; Moizard, Marie‐Pierre; Müh, J.P.; Raynaud, Martine; Dourlens, Juliette; Briault, Sylvain; Moraine, Claude

doi:10.1111/j.1399-0004.1994.tb04012.x

Cited by 16 publications

(1 citation statement)

References 40 publications

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“…Molecular resolutions of numbered IDX families since the 2017 XLID update are shown in Table 2. IDX14, described by Gendrot et al (1994) has a pathogenic alteration in FTSJ1 (p.Trp21Valfs*21) found by next generation sequencing of a panel of 286 genes associated with intellectual disability (Toutain, 2021, personal communication). IDX66, reported by Raynaud et al (2000) has a missense alteration in PAK3 (p.Met299Val).…”

Section: Resultsmentioning

confidence: 99%

X‐Linked intellectual disability update 2022

Schwartz

Louie

Toutain

et al. 2022

American J of Med Genetics Pt A

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Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X‐linked intellectual disability since the last update in 2017. The new genes were identified by sequencing of candidate genes (2), the entire X‐chromosome (2), the whole exome (15), or the whole genome (2). With these additions, 42 (21%) of the 199 named XLID syndromes and 27 (25%) of the 108 numbered nonsyndromic XLID families remain to be resolved at the molecular level. Although the pace of discovery of new XLID genes has slowed during the past 5 years, the density of genes on the X chromosome that cause intellectual disability still appears to be twice the density of intellectual disability genes on the autosomes.

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Section: Resultsmentioning

confidence: 99%

X‐Linked intellectual disability update 2022

Schwartz

Louie

Toutain

et al. 2022

American J of Med Genetics Pt A

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Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region

Robledo

Melis

Laficara³

et al. 1996

Am. J. Med. Genet.

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We used several microsatellite markers scattered along the X chromosome to search for linkage relationships in a large Sardinian pedigree segregating for nonspecific X‐linked mental retardation (MRX). Markers DXS573 and AR, located at chromosomal subregions Xp11.4–p11.22 and Xq11.2–q12, respectively, were found to segregate in full concordance with the disease, leading to a LOD score of 4.21 at zero recombination value. Recombination with the disease was found with markers MAOB and DXS454 located at Xp11.4–p11.3 and Xq21.1–q22, respectively; accordingly, markers distal to Xp11.4 and Xq22 also segregated independently of the disease. These findings provide strong linkage evidence in favor of the localization of one MRX mutational site in the pericentromeric region of the human X chromosome, justifying the assignment of a new symbol (MRX26) to our pedigree. Finally, on the basis of the recombinational events observed in the Xq21–q22 region, we have been able to refine the assignment of marker DXS456 to Xq21.33–q22. © 1996 Wiley‐Liss, Inc.

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Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)

et al. 1996

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Two genes responsible for a nonspecific form of X‐linked mental retardation (MRX28 and MRX33) were localized by linkage analysis with 40 highly polymorphic DNA markers situated along the entire the X chromosome. In family 1, the gene could be mapped within a 14‐cM interval at Xq28, distal to the recombining marker DXS1113 (MRX28). The maximum LOD score was 2.75, with DXS52 at ϕ = .0. In family 2, the gene was localized within a 30‐cM interval at Xp11.4‐22.12 between the recombining markers DXS365 and MAOB, including the DMD gene (MRX33). Maximum LOD scores of 2.82 were obtained with markers DMD‐STR49, DMD‐DysII, CYBB, and DXS1068. © 1996 Wiley‐Liss, Inc.

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X‐linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region

Cited by 16 publications

References 40 publications

X‐Linked intellectual disability update 2022

X‐Linked intellectual disability update 2022

Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)

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