Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

Clinical Genetics

Volumn 83, Issue 3, 2013, Pages 288-290

  Ariani, F ^a   Mari, F ^a,b   Amitrano, S ^a   Di Marco, C ^a   Artuso, R ^a   Scala, E ^a   Meloni, I ^a   Della Volpe, R ^a   Rossi, A ^a   van Bokhoven, H ^c   Renieri, A ^a,b  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF SIENA   (Italy)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; CASE REPORT; CHROMOSOME 1; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HEAD CIRCUMFERENCE; HEART FAILURE; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MALE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE INSUFFICIENCY; TRICUSPID VALVE REGURGITATION; X CHROMOSOME LINKED DISORDER;

ADULT; CHROMOSOMES, HUMAN, PAIR 1; EXOME; FAMILY HEALTH; FEMALE; GENES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84874019669     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01901.x     Document Type: Letter

References (5)

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3. Thornton GK, Woods CG. Primary microcephaly: do all roads lead to Rome? Trends Genet. 2009: 25 (11): 501-510.
4. Bond J, Roberts E, Mochida GH, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet 2002: 32 (2): 316-320.
5. Muhammad F, Mahmood Baig S, Hansen L, et al. Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A 2009: 149A (5): 926-930.