Microcephaly 4, primary, autosomal recessive
OMIM:604321Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | CASC5 |
|---|---|
| Reference transcript | NM_144508.4 |
| DNA Change | c.6125G>A |
| A.A. Change | p.Met2041Ile |
| Exon/Intron | exon 18 |
| Mutation Type | substitution |
| Reference | Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M.
Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13. |