Microcephaly: genetic causes
Evidence-based neurology checklist on microcephaly: genetic causes: Autosomal recessive primary microcephaly (MCPH) MCPH1: microcephalin MCPH2: WDR62 MCPH3: CDK5RAP2: associated with retinal and cochlear defects MCPH4: CASC5 MCPH5: ASPM MCPH6: CENPJ MCPH7: STIL MCPH8: CEP135 MCPH9: CEP152 MCPH10:…
Autosomal recessive primary microcephaly (MCPH)
- MCPH1: microcephalin
- MCPH2: WDR62
- MCPH3: CDK5RAP2: associated with retinal and cochlear defects
- MCPH4: CASC5
- MCPH5: ASPM
- MCPH6: CENPJ
- MCPH7: STIL
- MCPH8: CEP135
- MCPH9: CEP152
- MCPH10: ZNF335
- MCPH11: PHC1
- MCPH12: CDK6
- MCPH13: CENPE
- MCPH14: SASS6
- MCPH15: MFSD2A
- MCPH16: ANKLE2
- MCPH17: CIT
- MCPH18: WDFY3
- MCPH19: COPB2
- MCPH20: KIF14
- MCPH21: NCAPD2
- MCPH23: NCAPH
- MCPH24: NUP37
- MCPH25: MAP11
- Synonyms: microcephaly vera or true microcephaly
CEDNIK syndrome
MEDS syndrome
Emanuel syndrome
In-born errors of metabolism
Other genetic mutations
References
- Ashwal S, Michelson D, Plawner L, Dobyns WB; Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2009; 73:887-897.
- Zhou X, Zhi Y, Yu J, Xu D. The yin and yang of autosomal recessive primary microcephaly genes: insights from neurogenesis and carcinogenesis. Int J Mol Sci 2020; 21 pii: E1691.
- Naveed M, Kazmi SK, Amin M, Asif Z, Islam U, Shahid K, Tehreem S. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Genet Res (Camb) 2018; 100:e7.
- Nasser H, Vera L, Elmaleh-Bergès M, et al.CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. J Med Genet 2020 (Epub ahead of print).
- Poojary S, Shah KS, Bhalala KB, Hegde AU. CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. Pediatr Dermatol 2019; 36:372-376.
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