Gene localization in a family with X‐linked syndromal mental retardation (Prieto syndrome)

Watty, Anke; Prieto, Félix; Beneyto, Magdalena; Neugebauer, M.; Gal, Andreas

doi:10.1002/ajmg.1320380213

Cited by 18 publications

(5 citation statements)

References 19 publications

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“…Renpenning syndrome (RENS1, MIM 309500) at Xp11.4-p11.2 (Stevenson et al 1998), Prieto X-LMR syndrome (PRS, MIM 309610) at Xp11.2-p21.1 (Watty et al 1991), nonspecific X-linked mental retardation (MRX50, MIM 300115) at Xp11.3-p11.21 (Claes et al 1997), and others partially overlap the FGS4 locus (Fig. Renpenning syndrome (RENS1, MIM 309500) at Xp11.4-p11.2 (Stevenson et al 1998), Prieto X-LMR syndrome (PRS, MIM 309610) at Xp11.2-p21.1 (Watty et al 1991), nonspecific X-linked mental retardation (MRX50, MIM 300115) at Xp11.3-p11.21 (Claes et al 1997), and others partially overlap the FGS4 locus (Fig.…”

Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

et al. 2003

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FG syndrome (FGS, MIM 305450) is a rare X-linked recessive disorder comprising mental retardation and multiple malformations. Various families have been described to date, increasing our knowledge of the phenotype variability and making the clinical diagnosis complex, especially in sporadic patients. The first locus for FG syndrome (FGS1) was linked to chromosome region Xq12-q21.31, but other families have been excluded from this locus. The genetic heterogeneity of FG syndrome has been confirmed by analysis of an X chromosome inversion [inv(X)(q11q28)] in an affected boy and in his mentally retarded maternal uncle, suggesting that an additional locus for FG syndrome (FGS2, MIM 300321) is located at either Xq11 or Xq28. Recently, a third locus (FGS3) has been mapped to Xp22.3. We have identified and clinically characterized an Italian FG family, including 31 members with three affected males in two generations and two obligate carriers. We have excluded linkage to known FGS loci, whereas an extensive study of the whole X chromosome has yielded a maximum LOD score (Z max ) of 2.66 (recombination fraction=0) for markers between DXS8113 and sWXD805. This new locus for FG syndrome corresponds to a region of approximately 4.6 Mb on the X chromosome.

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Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

et al. 2003

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“…It is characterised by MR, dysmorphism and cerebral atrophy. 17 This syndrome differs from MEHMO by the nature of dysmorphic stigmata (abnormal growth of teeth, ear malformation, clinodactyly) and the much longer lifespan of patients. Additional X-linked mental retardation syndromes have been assigned to the pericentromeric region of the X chromosome thus placing the respective disease loci proximal to MEHMO.…”

Section: Discussionmentioning

confidence: 99%

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13

1998

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A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.

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“…The total number of recombinants directly observed in the region Xp22.3-Xp26.1 seems to be below the theoretical value expected on the assumption of one crossover per 1 million basepairs [Botstein et al, 19801. In particular, the total absence of recombination in the region Xpll.PXq22 raises the possibility that such an effect might be directly related to the nature of the MRX26 mutation as, for instance, would be expected for deletion mutations capable of suppressing the regional crossing-over in heterozygous carriers. To date, several XLMR syndromes have been mapped to the pericentromeric region [Porteous et al, 1992;Wieacker et al, 1987;Watty et al, 1991;Miles and Carpenter, 1989;Schwartz et al, 1990;Saugier-Veber et al, 19931. This report has localized a nonsyndromic type of mental retardation to the same region, and it would not be at all surprising if several XLMR conditions were eventually proven to be the result of mutations in the same region. Thus, it begins to appear that a great deal of genetic information localized at the pericentromeric re- .…”

Section: Resultsmentioning

confidence: 99%

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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Gene localization in a family with X‐linked syndromal mental retardation (Prieto syndrome)

Cited by 18 publications

References 19 publications

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13

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

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