Compound heterozygous aspm mutations in pakistani MCPH families

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 926-930

  Muhammad, Farooq ^a   Baig, Shahid Mahmood ^a   Hansen, Lars ^b   Hussain, Muhammad Sajid ^a   Inayat, Iram Anjum ^a   Aslam, Muhammad ^a   Qureshi, Javed Anver ^a   Toilat, Muhammad ^c   Kirst, Elisabeth ^c   Wajid, Muhammad ^a   Nurnberg, Peter ^c   Eiberg, Hans ^b   Tommerup, Niels ^b   Kjaer, Klaus W ^b,d  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

ASPM; Compound heterozygosity; MCPH5; Microcephaly; Seizures

Indexed keywords

ARTICLE; ASPM GENE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY; FRAMESHIFT MUTATION; GENE; GENE MAPPING; GENE SEQUENCE; GENETIC COUNSELING; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MICROCEPHALY; NONSENSE MUTATION; PAKISTAN; PRIORITY JOURNAL;

HAPLOTYPES; HETEROZYGOTE; HUMANS; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 66849135267     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32749     Document Type: Article

References (9)

1. 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.
2. Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RCM, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. 2003. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet 73:1170-1177.
3. Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M. 2008. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. Am J Med Genet Part A 146A:1439-1443.
4. Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chisti MS, Ali G, Siddique T, Ahmad W. 2006. Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene. Neurogenetics 7:105-110.
5. Kumar A, Blanton SH, BabuM, Markandaya M, Girimaji SC. 2004. Genetic analysis of primary microcephaly in Indian families: Novel ASPM mutations. Clin Genet 66:341-348.
6. McCreary BD, Rossiter JP, Robertson DM. 1996. Recessive (true) microcephaly: A case report with neuropathological observations. J Intellect Disabil Res 40:66-70.
7. Pichon B, Vankerckhove S, Bourrouillou G, Duprez L, Abramowicz MJ. 2004. A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly. Eur J Hum Genet 12:419-421.
8. Shen J, Eyaid W, Mochida GH, Al-moayyad F, Bodell A, Woods CG, Walsh CA. 2005. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet 42:725-729.
9. 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.