X-linked syndromic mental retardation of Lubs type is an allelic variant of the mental retardation caused by MECP2 gene mutations.
X-linked syndromic mental retardation 13 | ||||
MECP2 | ||||
X-linked syndromic mental retardation Lubs type | ||||
MECP2 | ||||
1. |
Collins AL et al. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. |
2. |
Meins M et al. (2005) Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. |
3. |
Van Esch H et al. (2005) Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. |
4. |
del Gaudio D et al. (2006) Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. |
5. |
Carvalho CM et al. (2009) Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. |
6. |
Belligni EF et al. (2010) MECP2 duplication in a patient with congenital central hypoventilation. |
7. |
Lubs H et al. (1999) XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. |
8. |
Friez MJ et al. (2006) Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. |
9. |
Lugtenberg D et al. (2009) Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. |
10. |
Ramocki MB et al. (2009) Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. |
11. |
Ramocki MB et al. (2010) The MECP2 duplication syndrome. |
12. |
Samaco RC et al. (2012) Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. |
13. |
Sztainberg Y et al. (2015) Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. |
14. |
OMIM.ORG article Omim 300260 |