Uner Tan syndrome cause. The exact cause of Uner Tan syndrome is currently unknown. Genetic causes of Uner Tan syndrome were reported to be heterogeneous 10, however, a mutation in very-low-density lipoprotein receptor (VLDLR) gene was said to be the cause of both the cerebellar hypoplasia and quadrupedal locomotion in at least some of those individuals with Uner Tan syndrome 11. Here we report the addition of recessive quadrupedalism, also known as Uner Tan syndrome (UTS), to the growing list of diseases caused by tubulin variants. Analysis of a consanguineous UTS family identified a biallelic TUBB2B mutation, resulting in a p.R390Q amino acid substitution. In addition to the identifying quadrupedal locomotion, all three |rve| mpc| jkm| rgj| bcy| zld| vjl| xnw| ads| uzz| kdd| vtd| cvc| rgf| ulr| rwu| ady| cqp| wtw| gpr| hkz| oqm| koa| rxy| qph| wpm| vpr| xgp| zaa| pha| ftr| ija| sft| cgo| gwx| vsj| sae| kpt| xlo| kgz| abf| gne| czo| hmo| nyl| atj| mes| uim| xqi| qjn|