WDR62 missense mutation in a consanguineous family with primary microcephaly

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 622-625

  Bacino, Carlos A ^a,b   Arriola, Luis A ^a   Wiszniewska, Joanna ^a   Bonnen, Penelope E ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Primary microcephaly; WDR62 mutations; WDR62 mutations and brain malformations; WDR62 mutations and microcephaly

Indexed keywords

GENOMIC DNA; GLUTAMIC ACID; LYSINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME ANALYSIS; CHROMOSOME Q BAND; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA EXTRACTION; GENE; GENE FREQUENCY; GENETIC CODE; GENETIC CONSERVATION; HETEROZYGOSITY LOSS; HISPANIC; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; PACHYGYRIA; PATIENT REFERRAL; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; WDR62 GENE;

CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MICROCEPHALY; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84857112591     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34417     Document Type: Article

References (25)

1. Bhat V, Girimaji S, Mohan G, Arvinda H, Singhmar P, Duvvari M, Kumar A. 2011. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clin Genet 80: 532-540.
2. Bilguvar K, Ozturk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoglu D, Tuysuz B, Caglayan AO, Gokben S, Kaymakcalan H, Barak T, Bakircioglu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dincer A, Johnson MH, Bronen RA, Kocer N, Per H, Mane S, Pamir MN, Yalcinkaya C, Kumandas S, Topcu M, Ozmen M, Sestan N, Lifton RP, State MW, Gunel M. 2010. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467: 207-210.
3. Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. 2002. ASPM is a major determinant of cerebral cortical size. Nat Genet 32: 316-320.
4. Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. 2005. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet 37: 353-355.
5. Cooper GM, Stone EA, Asimenos G, NISC Comparative Sequencing Program, Green ED, Batzoglou S, Sidow A. 2005. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15: 901-913.
6. Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S. 2010. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol 6: e1001025.
7. Ewing B, Green P. 1998. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 8: 186-194.
8. Ewing B, Hillier L, Wendl MC, Green P. 1998. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 8: 175-185.
9. Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. 2010. Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. Am J Hum Genet 87: 40-51.
10. Gul A, Hassan MJ, Hussain S, Raza SI, Chishti MS, Ahmad W. 2006. A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. J Hum Genet 51: 760-764.
11. Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. 2002. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 71: 136-142.
12. Jamieson CR, Govaerts C, Abramowicz MJ. 1999. Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 65: 1465-1469.
13. Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ. 2000. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 67: 1575-1577.
14. Kumar A, Girimaji SC, Duvvari MR, Blanton SH. 2009. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet 84: 286-290.
15. Leal GF, Roberts E, Silva EO, Costa SM, Hampshire DJ, Woods CG. 2003. A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 40: 540-542.
16. Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, Turner G, Mueller RF, Lench NJ, Woods CG. 2000. A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 66: 724-727.
17. Nicholas AK, Khurshid M, Desir J, Carvalho OP, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG. 2010. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 42: 1010-1014.
18. Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Megarbane A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A. 2009. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 73: 962-969.
19. Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, Roberts E, Woods CG. 2000. A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 67: 1578-1580.
20. Roberts E, Jackson AP, Carradice AC, Deeble VJ, Mannan J, Rashid Y, Jafri H, McHale DP, Markham AF, Lench NJ, Woods CG. 1999. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 7: 815-820.
21. Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M. 2009. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. Eur J Med Genet 52: 180-184.
22. Siepel A, Pollard KS, Haussler D. 2006. New methods for detecting lineage-specific selection. RECOMB. pp 190-205.
23. Tolmie JL, McNay M, Stephenson JB, Doyle D, Connor JM. 1987. Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet 27: 583-594.
24. Woods CG, Bond J, Enard W. 2005. Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings. Am J Hum Genet 76: 717-728.
25. Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topcu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. 2010. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 42: 1015-1020.