A novel splice-site mutation in ALS establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias

PLoS ONE

Volumn 9, Issue 12, 2014, Pages

  Siddiqi, Saima ^a   Foo, Jia Nee ^b   Vu, Anthony ^c   Azim, Saad ^d   Silver, David L ^e   Mansoor, Atika ^a   Tay, Stacey Kiat Hong ^f   Abbasi, Sumiya ^g   Hashmi, Asraf Hussain ^a   Janjua, Jamal ^h   Khalid, Sumbal ^g   Tai, E Shyong ^e,i   Yeo, Gene W ^c,f   Khor, Chiea Chuen ^b,f  

^a INSTITUTE OF BIOMEDICAL AND GENETIC ENGINEERING IBGE   (Pakistan)

^b GENOME INSTITUTE OF SINGAPORE   (Singapore)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Ali Medical Center   (Pakistan)

^e DUKE NUS MEDICAL SCHOOL   (Singapore)

^f NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^g INTERNATIONAL ISLAMIC UNIVERSITY   (Pakistan)

^h College of Physicians Sur ^*  (Pakistan)

ⁱ NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALS2 GENE; AMYOTROPHIC LATERAL SCLEROSIS; ANARTHRIA; ARTICLE; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; EXON SKIPPING; FEMALE; GENE MUTATION; GENERALIZED DYSTONIA; HOMOZYGOSITY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; ONSET AGE; PAKISTANI; PEDIGREE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCOLIOSIS; SEQUENCE ANALYSIS; SPLICE SITE MUTATION; WHOLE EXOME SEQUENCING; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; DYSTONIC DISORDER; EXON; GENETICS; INFANT; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RNA SPLICING;

ANARTHRIA;

ALS2 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; RNA SPLICING;

ADOLESCENT; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DYSTONIC DISORDERS; EXONS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MUTATION; PEDIGREE; PHENOTYPE; RNA SPLICE SITES;

EID: 84956609887     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0113258     Document Type: Article

References (20)

1. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, et al. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745-755.
2. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, et al. (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35.
3. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
4. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58: 1323-1337.
5. Sobel E, Sengul H, Weeks DE (2001) Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered 52: 121-131.
6. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
7. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
8. Zhang MQ (1998) Statistical features of human exons and their flanking regions. Hum Mol Genet 7: 919-932.
9. Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, et al. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
10. Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11: 377-94.
11. Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, et al. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506-511.
12. Bird TD (1993) Charcot-Marie-Tooth hereditary heuropathy overview. In: Pagon RA (ed) GeneReviewsTM [Internet]. University of Washington, Seattle, WA. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1358.
13. Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, et al. (1994) Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 7: 425-428.
14. RobberechtW, Philips T (2013) The changing scene of amyotrophic lateral sclerosis. Nat Rev Neurosci 14: 248-264.
15. Trojsi F, Piccirillo G, Femiano C, Damiano R, Rosaria Monsurro M (2013) An Italian kindred with FALS due to c.149T.C mutation in the SOD1 gene: case report of an affected family member. Acta Myol 32: 23-26.
16. Verma A, Tandan R (2013) RNA quality control and protein aggregates in amyotrophic lateral sclerosis: a review. Muscle Nerve 47: 330-338.
17. Sheerin UM, Schneider SA, Carr L, Deuschl G, Hopfner F, et al. (2014) ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 82: 1065-1067.
18. Panzeri C, De Palma C, Martinuzzi A, Daga A, De Polo G, et al. (2006) The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain 129: 1710-1719.
19. Ellis CM, Suckling J, Amaro E Jr, Bullmore ET, Simmons A, et al. (2001) Volumetric analysis reveals corticospinal tract degeneration and extramotor involvement in ALS. Neurology 57: 1571-1578.
20. Stitziel NO, Kiezun A, Sunyaev S (2011) Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol 12: 227.