MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Vits, Lieve; Camp, Guy Van; Coucke, Paul; Fransén, Erik; Boulle, Kristel De; Reyniers, Edwin; Korn, Bernhard; Poustka, Annemarie; Wilson, Golder N.; Schrander‐Stumpel, Connie; Winter, R M; Schwartz, Charles E.; Willems, Patrick J.

doi:10.1038/ng0794-408

Cited by 144 publications

(91 citation statements)

References 35 publications

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“…[37][38][39][40][41][42][43][44][45][46][47][48] The principal differentially expressed genes upregulated in neurothekeomas and cellular fibrous histiocytomas over nerve sheath myxomas and schwannomas consisted of those encoding various metalloproteinases and glycoproteins. These genes are involved in extracellular matrix growth and remodeling, and cell adhesion in fibroblasts and macrophages (Table 6).…”

Section: Resultsmentioning

confidence: 99%

Differential gene expression profiles of neurothekeomas and nerve sheath myxomas by microarray analysis

Sheth

Binder

et al. 2011

Modern Pathology

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Section: Resultsmentioning

confidence: 99%

Differential gene expression profiles of neurothekeomas and nerve sheath myxomas by microarray analysis

Sheth

Binder

et al. 2011

Modern Pathology

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“…We identified Xq28 duplications that involve MECP2 and flanking genes such as L1CAM and SLC6A8, which are known to play a role in neuronal cell migration or nonspecific mental retardation. 37,38 Although flanking gene contribution is a theoretic possibility, these collective data suggest that increased MECP2 gene dosage is specifically responsible for the phenotypes in male patients. Submicroscopic Xq28 duplications containing the MECP2 gene with corresponding increase in RNA expression were reported in multiple male patients.…”

Section: Discussionmentioning

confidence: 99%

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Gaudio

Fang

Scaglia

et al. 2006

Genetics in Medicine

246

264

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Purpose: Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males. Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome. Methods: Clinical testing through quantitative DNA methods and chromosomal microarray analysis in our laboratories identified seven male patients with increased MECP2 gene copy number.Results: Duplication of the entire MECP2 gene was found in six patients, and MECP2 triplication was found in one patient with the most severe phenotype. The Xq28 duplications observed in these males are unique and vary in size from approximately 200 kb to 2.2 Mb. Three of the mothers who were tested were asymptomatic duplication carriers with skewed X-inactivation. In silico analysis of the Xq28 flanking region showed numerous low-copy repeats with potential roles in recombination. Conclusions: These collective data suggest that increased MECP2 gene copy number is mainly responsible for the neurodevelopmental phenotypes in these males. These findings underscore the allelic and phenotypic heterogeneity associated with the MECP2 gene and highlight the value of molecular analysis for patient diagnosis, family members at risk, and genetic counseling. Genet Med 2006:8(12):784-792.

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“…Gene loci mapped in such families are given temporary MRXS locus numbers until a syndrome name is assigned. Well established XLMR syndromes are MASA (mental retardation, adducted thumbs, shuffling gait and aphasia), 7,8 and the mental retardation α-thalassemia 9 syndrome.…”

Section: Introductionmentioning

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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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Cited by 144 publications

References 35 publications

Differential gene expression profiles of neurothekeomas and nerve sheath myxomas by microarray analysis

Differential gene expression profiles of neurothekeomas and nerve sheath myxomas by microarray analysis

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

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

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