Primary microcephaly

Primary microcephaly is characterized by a significantly reduced head circumference likely directly caused by the development of a small, but apparently normally formed brain (see links to subtypes below). All patients are affected mentally. Fly stocks in the Bloomington collection that can be used to study primary microcephaly are listed here.

General information links for Primary microcephaly:

  • OMIM links for individual subtypes are provided in the table below
  • a search for "primary microcephaly" in NLM/NIH's Genetics Home Reference will bring up GHR links for several of the genes below
MCPH subtypes with causative genes identified
Microcephaly subtypeHuman geneFly gene
MCPH1MCPH1/MicrocephalinMicrocephalin (MCPH1)
MCPH3Cdk5rap2 (CDK5 regulatory subunit associated protein 2)centrosomin (cnn) (but see also Eisman and Kaufman, 2013)
MCPH4Cep152 (Centrosomal protein 152 kDa)asterless (asl)
MCPH5ASPM (Abnormal spindle-like, microcephaly-associated)abnormal spindle (asp)
MCPH6CENPJ/CPAP (Centromeric protein J)Sas-4
MCPH7STIL (SCL/TAL1 interrupting locus)ana2
MCPH8CEP135 (Centrosomal protein, 135-kD)Cep135