A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 43-45

  Wakil, Salma M ^a   Bohlega, Saeed ^a   Hagos, Samya ^a   Baz, Batoul ^a   Al Dossari, Haya ^a   Ramzan, Khushnooda ^a   Al Hassnan, Zuhair N ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

ERLIN2; Hereditary spastic paraplegias; SPG18

Indexed keywords

ERLIN2 PROTEIN; GENOMIC DNA; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COGNITION; DNA EXTRACTION; DNA SEQUENCE; ENDOPLASMIC RETICULUM DEGRADATION PATHWAY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; MALE; MOTOR PERFORMANCE; MUSCLE HYPERTONIA; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SAUDI ARABIA; SCHOOL CHILD; SIBLING; SIGNAL TRANSDUCTION; SPASTICITY; SPEECH; SPLICE SITE MUTATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CONSANGUINITY; GENE ORDER; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; RNA SPLICE SITES; SAUDI ARABIA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84871704935     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.10.003     Document Type: Article

References (11)

1. Finsterer J., Loscher W., Quasthoff S., Wanschitz J., Auer-Grumbach M., Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J. Neurol. Sci. 2012, 318(1-2):1-18.
2. Al-Yahyaee S., Al-Gazali L.I., De Jonghe P., Al-Barwany H., Al-Kindi M., De Vriendt E., Chand P., Koul R., Jacob P.C., Gururaj A., Sztriha L., Parrado A., Van Broeckhoven C., Bayoumi R.A. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 2006, 66(8):1230-1234.
3. Alazami A.M., Adly N., Al Dhalaan H., Alkuraya F.S. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 2011, 12(4):333-336.
4. Yilidirim Y., Orhan E.K., Iseri S.A., Serdaroglu-Oflazerm P., Kara B., Solakoglu S., Tolun A. A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. Hum. Mol. Genet. 2011, 20(10):1886-1892.
5. Wakil S.M., Murad H.N., Baz B.M., Hagos S.T., Al-Amr R.A., Al-Yamani S.A., Al-Wadaee S.M., Meyer B.F., Bohlega S.A. Autosomal recessive spastic paraplegia with thin corpus callosum among Saudis. Neurosciences (Riyadh) 2012, 17(1):48-52.
6. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
7. Carr I.M., Flintoff K.J., Taylor G.R., Markham A.F., Bonthron D.T. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families. Hum. Mutat. 2006, 27(10):1041-1046.
8. Browman D.T., Resek M.E., Zajchowski L.D., Robbins S.M. Erlin-1 and erlin-2 are novel members of the prohibition family of proteins that define lipid-raft-like domains of the ER. J. Cell. Sci. 2006, 119(Pt 15):3149-3160.
9. Brownman D.T., Hoegg M.B., Robbins S.M. The SPFH2 domain-containing proteins: more than lipid raft markers. Trends Cell Biol. 2007, 17(8):394-402.
10. Pearce M.M., Wang Y., Kelley G.G., Wojcikiewicz R.J. SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-triphosphate receptors and other substrates in mammalian cells. J. Biol. Chem. 2007, 282(28):20104-20115.
11. Vembar S.S., Brodsky J.L. One step at a time: endoplasmic reticulum-associated degradation. Nat. Rev. Mol. Cell. Biol. 2008, 9(12):944-957.