RTTN
Gene name: rotatinOMIM ID: 610436
Chromosome location: 18q22.2
Mutations
| Disease/Phenotype | Microcephaly, short stature, and polymicrogyria with seizures |
|---|---|
| Reference transcript | NM_173630.3 |
| DNA Change | c.2953A>G |
| A.A. Change | p.Arg985Gly |
| Exon/Intron | exon 23 |
| Mutation Type | substitution |
| Reference | Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Del Giudice EM, Perrone L, Nigro V.
Expanding the phenotype of RTTN varations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. Clin Genet. 2016 Mar 4. doi: 10.1111/cge.12771. [Epub ahead of print] |