The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome

Clinical Genetics

Volumn 88, Issue 4, 2015, Pages 386-390

  Shashi, Vandana ^a   Xie, P ^a   Schoch, K ^a   Goldstein, D B ^a   Howard, T D ^b   Berry, M N ^b   Schwartz, C E ^c   Cronin, K ^a   Sliwa, S ^a   Allen, A ^a   Need, A C ^d  

^a DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WAKE FOREST UNIVERSITY HEALTH SCIENCES   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Shashi syndrome; Whole exome sequencing; X linked intellectual disability; X linked mental retardation

Indexed keywords

RNA BINDING PROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; RBMX PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; PRIORITY JOURNAL; RBMX GENE; SCORING SYSTEM; SEQUENCE ANALYSIS; X LINKED INTELLECTUAL DISABILITY SYNDROME; CASE REPORT; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; MIDDLE AGED; PEDIGREE; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; AGED; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; PEDIGREE;

EID: 84941745221     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12511     Document Type: Article

References (18)

1. Gecz J, Shoubridge C, Corbett M. The genetic landscape of intellectual disability arising from chromosome X. Trends Genet 2009: 25: 308-316.
2. Lubs HA, Stevenson RE, Schwartz CE. Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 2012: 90: 579-590.
3. Bassani S, Zapata J, Gerosa L et al. The neurobiology of X-linked intellectual disability. Neuroscientist 2013: 19: 541-552.
4. Tarpey PS, Smith R, Pleasance E et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009: 41: 535-543.
5. Piton A, Redin C, Mandel JL. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013: 93: 368-383.
6. Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 2013: 9: e1003709.
7. Shashi V, Berry MN, Shoaf S et al. A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. Am J Hum Genet 2000: 66: 469-479.
8. Castro NH, dos Santos RC, Nelson R et al. Shashi XLMR syndrome: report of a second family. Am J Med Genet A 2003: 118A: 49-51.
9. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010: 26: 589-595.
10. Cingolani P, Platts A, Wang le L et al. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3. Fly (Austin) 2012: 6: 80-92.
11. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7: 248-249.
12. Lingenfelter PA, Delbridge ML, Thomas S et al. Expression and conservation of processed copies of the RBMX gene. Mamm Genome 2001: 12: 538-545.
13. Billuart P, Bienvenu T, Ronce N et al. Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation. Pathol Biol (Paris) 1998: 46: 678.
14. Clinvar. Retrieved 10 March 2014, from https://www.ncbi.nlm.nih.gov/clinvar/
15. Tsend-Ayush E, O'Sullivan LA, Grutzner FS et al. RBMX gene is essential for brain development in zebrafish. Dev Dyn 2005: 234: 682-688.
16. Dichmann DS, Fletcher RB, Harland RM. Expression cloning in Xenopus identifies RNA-binding proteins as regulators of embryogenesis and Rbmx as necessary for neural and muscle development. Dev Dyn 2008: 237: 1755-1766.
17. Atkin JF, Flaitz K, Patil S et al. A new X-linked mental retardation syndrome. Am J Med Genet 1985: 21: 697-705.
18. Baraitser M, Reardon W, Vijeratnam S. Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. Am J Med Genet 1995: 57: 380-384.