A novel mutation in KIAA0196: Identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort

Journal of Medical Genetics

Volumn 50, Issue 12, 2013, Pages 819-822

  Elliott, Alison M ^a,b   Simard, Louise R ^a   Coghlan, Gail ^a   Chudley, Albert E ^a,b   Chodirker, Bernard N ^a,b   Greenberg, Cheryl R ^a,b   Burch, Tanya ^a   Ly, Valentina ^a   Hatch, Grant M ^a   Zelinski, Teresa ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b WINNIPEG REGIONAL HEALTH AUTHORITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

EXPORTIN 5; GENOMIC DNA; GLYCOPROTEIN; IMPORTIN BETA1; KIAA0196 PROTEIN; STRUMPELLIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYCEPHALY; CHROMOSOME 8Q; CLINICAL FEATURE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LOW SET EAR; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL; RITSCHER SCHINZEL SYNDROME; RNA ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

CLINICAL GENETICS;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; DANDY-WALKER SYNDROME; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; INDIANS, NORTH AMERICAN; MALE; MANITOBA; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SEQUENCE ALIGNMENT;

EID: 84890235268     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101715     Document Type: Article

References (18)

1. Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet 1987;26:481-91.
2. Verloes A, Dresse M, Jovanovic M, Dodinval P, Geubelle F. 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). Clin Genet 1989;35:205-8.
3. Lauener R, Seger R, Jorg W, Halle F, Aeppli R, Schinzel A. Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities. Am J Med Genet 1989;33:280-1.
4. Hoo JJ, Kreiter M, Halverson N, Perszyk A. 3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome. Am J Med Genet 1994;52:66-9.
5. Marles SL, Chodirker BN, Greenberg CR, Chudley AE. Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. Am J Med Genet 1995;56:343-50.
6. Kosaki K, Curry CJ, Roeder E, Jones KL. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet 1997;68:421-7.
7. Orstavik KH, Bechensteen AG, Fugelseth D, Orderud W. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. Am J Med Genet 1998;75:300-3.
8. Leonardi ML, Pai GS, Wilkes B, Lebel RR. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet 2001;102:237-42.
9. Khalifa MM, Cappon S, Soboleski D, Armstrong D. New Mental Retardation Syndrome Associated with Ocular Colobomas, Cleft Palate, and Genital, Skeletal and Craniofacial Abnormalities. Am J Med Genet 2002;107:237-42.
10. Craft E, Wildig CE, Crow YJ. 3C Syndrome. Am J Med Genet 2010;152A:1026-7.
11. Seidahmed MZ, Alkuraya FS, Shaheed M, Al ZM, Al MW, Mansour F, Mustafa T, Farid G, Salih MA. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. Am J Med Genet A 2011;155A:1393-7.
12. Chodirker BN, Marles SL, Chudley AE. A not-so-"new" mental retardation syndrome. Am J Med Genet 2002;11:106-8.
13. DeScipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A 2005;134A:3-11.
14. DeScipio C. The 6p subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:377--382.
15. Micheil IA. Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. Clin Dysmorphol 2005;14:209-10.
16. Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. A population-based study of autosomal-recessive disease-causing mutations in a Founder Population. Am J Hum Genet 2012;91:608-20.
17. Clemen CS, Tangavelou K, Strucksberg KH, Just S, Gaertner L, Regus-Leidig H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Muller S, Schoser B, Hanisch FG, Rottbauer W, Blumcke I, von HS, Eichinger L, Schroder R. Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain 2010;133:2920-41.
18. Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 2007;80:152-61.