A novel WDR62 mutation causes primary microcephaly in a Pakistani family

Molecular Biology Reports

Volumn 40, Issue 1, 2013, Pages 591-595

  Memon, Mazhar Mustafa ^a   Raza, Syed Irfan ^a   Basit, Sulman ^a   Kousar, Rizwana ^a   Ahmad, Wasim ^a   Ansar, Muhammad ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Head circumference; MCPH; Microcephaly; Mutation; Pakistan; WDR62

Indexed keywords

GENOMIC DNA;

ARTICLE; CORPUS CALLOSUM; DISEASE SEVERITY; DNA SEQUENCE; GENE ACTIVITY; GENE DELETION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; MICROCEPHALY; PAKISTAN; SCHIZENCEPHALY; SEQUENCE ANALYSIS; WDR62 GENE;

BASE SEQUENCE; BRAIN; CONSANGUINITY; FEMALE; GENOTYPE; HUMANS; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; NEUROIMAGING; PAKISTAN; PEDIGREE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84871262031     PISSN: 03014851     EISSN: 15734978     Source Type: Journal    
DOI: 10.1007/s11033-012-2097-7     Document Type: Article

References (11)

1. Mahmood S, Ahmad W, Hassan MJ (2011) Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 6:39
2. Sir JH, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F (2011) A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet 43:1147-1153
3. Hussain MS, Baig SM, Neumann S, Nürnberg G, Farooq M, Ahmad I et al (2012) A Truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet 90:871-878
4. Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B et al (2010) Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467:207-210
5. Nicholas AK, Khurshid M, Désir J, Carvalho OP, Cox JJ, Thornton G et al (2010) WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet 42:1010-1014
6. Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM et al (2010) Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet 42:1015-1020
7. Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR et al (2011) Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clin Genet 20:532-540
8. Kousar R, Hassan MJ, Khan B, Basit S, Mahmood S, Mir A et al (2011) Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC Neurol 11:119
9. Cohen-Katsenelson K, Wasserman T, Khateb S, Whitmarsh AJ, Aronheim A (2011) Docking interactions of the JNK scaffold protein WDR62. Biochem J 439:381-390
10. Bacino CA, Arriola LA, Wiszniewska J, Bonnen PE (2012) WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet 158A:622-625
11. Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM et al (2011) Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet 155A:2071-2077