XLMR genes: Update 1992

Neri, Giovanni; Chiurazzi, Pietro; Arena, Fernando; Lubs, Herbert A.; Glass, Ian A.

doi:10.1002/ajmg.1320430158

Cited by 28 publications

(8 citation statements)

References 28 publications

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“…Many of the XLMR syndromes are associated with abnormalities of the mid-face and eyes [Neri et al, 19921 but none match the phenotype of these males. Stoll et al [19911 reported a family with XLMR and short stature, frontal bossing, depressed nasal bridge with broad tip, and malar hypoplasia in affected individuals.…”

Section: Discussionmentioning

confidence: 99%

New X‐linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation

Wisniewski

1994

Am. J. Med. Genet.

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We report on 2 brothers and their nephew with an apparently new X-linked mental retardation (XLMR) syndrome characterized by a distinct facial appearance, growth retardation, and severe mental retardation. The facial traits included triangular shape; bifrontal narrowness; malar flatness; blepharophimosis; very deeply set eyes; epicanthus inversus; bulbous nose; low hairline; low-set, deeply cupped, and protruding ears; short ill-defined philtrum; and thin tented upper lip. These facial anomalies are particularly striking and recognizable even at birth. The boys were small for gestational age and remained below -2 SD in growth parameters. With age, large joint contractures developed. Pectus excavatum was apparent at birth but became more obvious with age. Global developmental delay was evident in infancy. The brothers were nonverbal while their nephew spoke simple words. Optic atrophy, esotropia, nystagmus, and spastic diplegia were evident. They were self-abusive, hyperactive, and poorly coordinated. CT scans demonstrated atrophic hydrocephalus. No EEG abnormalities were detected. Karyotypes were 46,XY and fragile X negative. Routine chemistries; amino, organic, and uronic acids; oligosaccharides; lysosomal enzymes; and very long chain fatty acids were normal. Remarkable phenotypic similarity between these brothers and their nephew and lack of manifestations in their mothers makes X-linked recessive inheritance likely. This syndrome, which does not appear to have been reported previously, adds to the delineation of XLMR.

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Section: Discussionmentioning

confidence: 99%

New X‐linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation

Wisniewski

1994

Am. J. Med. Genet.

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“…In this study, we mapped the disease locus in a Spanish family segregating for one form of nonspecific X-linked mental retardation in Xp22.2-p22.3. Three other MRX loci have been assigned so far to the same chromosomal region, or to a broader region spanning in part Xp22.2-22.3 by linkage studies [see Neri et al, 1992;Kozak et al, 19931. MRX2 shows close linkage to DXS85 [Arveiler et al, 19881. Patients in that family present with a characteristic syndrome of macrocephaly, square face, macroorchidism, and short stature, different from the clinical findings in the Spanish family.…”

Section: Discussionmentioning

confidence: 99%

Localization of a gene for X‐linked nonspecific mental retardation (MRX24) in Xp22.2–p22.3

et al. 1995

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Nonspecific X-linked mental retardation (MRX) includes several distinct genetic entities in which mental retardation is not associated with additional distinguishing physical changes. We report linkage data in a Spanish family with MRX, using polymorphic DNA markers distributed over the X chromosome. Two-point linkage analysis demonstrated close linkage between the MRX locus and DXS85 in Xp22.3 with a peak lod score of 2.28 at a theta = 0.00. Analysis of multiple informative meioses suggested a localization of the MRX locus (MRX24) between DXS278 and DXS207. Multipoint linkage analysis resulted in a maximum LOD score of 2.45 at 3 cM proximal to DXS85, and allowed us to reject a localization of the MRX24 gene in all other regions from Xp21-Xqter. These findings localize the MRX24 gene in the chromosomal region Xp22.2-p22.3.

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“…Through studies beginning in the late 1980s, the number of regionally mapped XLMR syndromes and nonsyndromic XLMR families grew steadily (Glass, 1991;Neri et al, 1991Neri et al, , 1992Neri et al, , 1994Lubs et al, 1996Lubs et al, , 1999Chiurazzi et al, 2001). Diagnoses became more specific as genocopies and phenocopies could be, at least to some degree, eliminated.…”

Section: Molecular Contributionsmentioning

confidence: 99%

Clinical and molecular contributions to the understanding of X-linked mental retardation

Stevenson

Schwartz²

2002

Cytogenet Genome Res

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X-linked mental retardation (XLMR) was first recognized in the 1940s, long before any human genes had been mapped. It is now estimated that XLMR has a prevalence of 2.6 cases per 1,000 population, accounting for over 10% of all cases of mental retardation. It is likely that over 150 genes are associated with XLMR. Fragile X syndrome, the most common form of XLMR, has a prevalence of about 1 in 4,000 males. Clinically, XLMR exists in syndromic (mental retardation with other somatic, neurological, behavioral, or metabolic findings) and nonsyndromic (mental retardation without other distinguishing features) forms. However, recent findings have caused this distinction to become blurred as mutations in some genes have been found in both syndromic and nonsyndromic XLMR. Progress in XLMR gene identification has allowed some insight into various pathways and cellular activities involved in developing cognitive functions. The genes involve signaling pathways, transcription factors, cytoskeletal organization, cell adhesion and migration, and maintenance of the cell membrane potential.

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XLMR genes: Update 1992

Cited by 28 publications

References 28 publications

New X‐linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation

New X‐linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation

Localization of a gene for X‐linked nonspecific mental retardation (MRX24) in Xp22.2–p22.3

Clinical and molecular contributions to the understanding of X-linked mental retardation

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