Literature DB >> 9332663

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

V des Portes1, N Soufir, A Carrié, P Billuart, T Bienvenu, M C Vinet, C Beldjord, G Ponsot, A Kahn, J Boué, J Chelly.   

Abstract

We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males, without any specific clinical findings. Two point linkage analysis demonstrated significant linkage between the disorder and two markers in Xq23 (Zmax = 3.75, theta = 0). Multipoint linkage analyses confirmed the significant linkage with a maximum lod score (Z = 3.96, theta = 0) at DXS1059. Recombination events observed with the flanking markers DXS1105 and DXS8067 delineate a 17 cM interval. This interval overlaps with several loci of XLMR disorders previously localized in Xq23-q24, which are reviewed herein.

Entities:  

Mesh:

Substances:

Year:  1997        PMID: 9332663     DOI: 10.1002/(sici)1096-8628(19971031)72:3<324::aid-ajmg14>3.0.co;2-v

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1.

Authors:  H E Steingruber; A Dunham; A J Coffey; S M Clegg; G R Howell; G L Maslen; C E Scott; R Gwilliam; P J Hunt; E C Sotheran; E J Huckle; S E Hunt; P Dhami; C Soderlund; M A Leversha; D R Bentley; M T Ross
Journal:  Genome Res       Date:  1999-08       Impact factor: 9.043

2.  A TRPC5-regulated calcium signaling pathway controls dendrite patterning in the mammalian brain.

Authors:  Sidharth V Puram; Antonio Riccio; Samir Koirala; Yoshiho Ikeuchi; Albert H Kim; Gabriel Corfas; Azad Bonni
Journal:  Genes Dev       Date:  2011-12-01       Impact factor: 11.361

Review 3.  Group I PAKs in myelin formation and repair of the central nervous system: what, when, and how.

Authors:  Yan Wang; Fuzheng Guo
Journal:  Biol Rev Camb Philos Soc       Date:  2021-11-22

4.  Application of Chromosomal Microarray for Evaluation of Idiopathic Short Stature in Asian Indian Children: A Pilot Study.

Authors:  Hema Singh; Pradeep Tiwari; Vijay Bhavi; Praveen Singh Chaudhary; Prashanth Suravajhala; M Krishna Mohan; Sandeep Kumar Mathur
Journal:  Indian J Endocrinol Metab       Date:  2018 Jan-Feb

Review 5.  Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.

Authors:  Valentina Zamboni; Rebecca Jones; Alessandro Umbach; Alessandra Ammoni; Maria Passafaro; Emilio Hirsch; Giorgio R Merlo
Journal:  Int J Mol Sci       Date:  2018-06-20       Impact factor: 5.923

Review 6.  Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.

Authors:  Marcello Scala; Masashi Nishikawa; Koh-Ichi Nagata; Pasquale Striano
Journal:  Cells       Date:  2021-12-02       Impact factor: 6.600

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.