Study of consanguineous populations can improve the annotation of SNP databases

European Journal of Medical Genetics

Volumn 54, Issue 2, 2011, Pages 118-120

  Shamseldin, Hanan E ^a   Al Dosari, Mohammed ^a,b   Al Jbali, Latifa ^a   Rahbeeni, Zuhair ^a   Qari, Alya ^a   Hashem, Mais ^a   Alkuraya, Fowzan S ^a,c,d  

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

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Benign SNP; Glycogeneosis type III; Homozygosity; Splicing; Ullrich muscular dystrophy

Indexed keywords

AGL PROTEIN; COLLAGEN ALPHA 2 TYPE 6; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLINICAL GENETICS; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DATA BASE; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 3; HOMOZYGOSITY; HUMAN; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME;

COLLAGEN TYPE VI; CONSANGUINITY; DATABASES, GENETIC; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; MOLECULAR SEQUENCE ANNOTATION; MUSCULAR DYSTROPHIES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79952483789     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.10.009     Document Type: Article

References (15)

1. Alkuraya F.S. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet. Med. 2010, 12:236-239.
2. Bodmer W., Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 2008, 40:695-701.
3. Brookes A.J. The essence of SNPs. Gene 1999, 234:177-186.
4. Curry C.J., Mao R., Aston E., Mongia S.K., Treisman T., Procter M., Chou B., Whitby H., South S.T., Brothman A.R. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?. Am. J. Med. Genet. A 2008, 146A:1903-1910.
5. Day I.N. dbSNP in the detail and copy number complexities. Hum. Mutat. 2010, 31:2-4.
6. Kawahara G., Ogawa M., Okada M., Malicdan M.C., Goto Y., Hayashi Y.K., Noguchi S., Nishino I. Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes. Muscle Nerve 2008, 38:1192-1195.
7. Knijnenburg J., Oberstein S.A., Frei K., Lucas T., Gijsbers A.C., Ruivenkamp C.A., Tanke H.J., Szuhai K. A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents. J. Med. Genet. 2009, 46:412-417.
8. Lampe A.K., Dunn D.M., von Niederhausern A.C., Hamil C., Aoyagi A., Laval S.H., Marie S.K., Chu M.L., Swoboda K., Muntoni F., Bonnemann C.G., Flanigan K.M., Bushby K.M., Weiss R.B. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J. Med. Genet. 2005, 42:108-120.
9. Manolio T.A., Collins F.S., Cox N.J., Goldstein D.B., Hindorff L.A., Hunter D.J., McCarthy M.I., Ramos E.M., Cardon L.R., Chakravarti A., Cho J.H., Guttmacher A.E., Kong A., Kruglyak L., Mardis E., Rotimi C.N., Slatkin M., Valle D., Whittemore A.S., Boehnke M., Clark A.G., Eichler E.E., Gibson G., Haines J.L., Mackay T.F., McCarroll S.A., Visscher P.M. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
10. Martoni E., Urciuolo A., Sabatelli P., Fabris M., Bovolenta M., Neri M., Grumati P., D'Amico A., Pane M., Mercuri E., Bertini E., Merlini L., Bonaldo P., Ferlini A., Gualandi F. Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. Hum. Mutat. 2009, 30:E662-E672.
11. Nakayama A., Yamamoto K., Tabata S. Identification of the catalytic residues of bifunctional glycogen debranching enzyme. J. Biol. Chem. 2001, 276:28824-28828.
12. Nannya Y., Sanada M., Nakazaki K., Hosoya N., Wang L., Hangaishi A., Kurokawa M., Chiba S., Bailey D.K., Kennedy G.C., Ogawa S. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 2005, 65:6071-6079.
13. Ng P.C., Levy S., Huang J., Stockwell T.B., Walenz B.P., Li K., Axelrod N., Busam D.A., Strausberg R.L., Venter J.C. Genetic variation in an individual human exome. PLoS Genet. 2008, 4. e1000160.
14. Yngvadottir B., Xue Y., Searle S., Hunt S., Delgado M., Morrison J., Whittaker P., Deloukas P., Tyler-Smith C. A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am. J. Hum. Genet. 2009, 84:224-234.
15. Zhang R.Z., Sabatelli P., Pan T.C., Squarzoni S., Mattioli E., Bertini E., Pepe G., Chu M.L. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. J. Biol. Chem. 2002, 277:43557-43564.