SNP Shot: Genomic Insights

Desmosterolosis is a disorder marked by neurological issues, including brain malformations and delayed development. Additional signs and symptoms can also be present.

Children affected by desmosterolosis experience delays in speech and motor development, like sitting and walking. As they grow older, some may eventually walk with assistance, but verbal communication often remains limited to a few words or phrases. Typical brain abnormalities seen in desmosterolosis include malformation of the corpus callosum (the tissue connecting the brain's hemispheres) and white matter loss, which is composed of nerve fibers insulated by myelin.

Individuals with desmosterolosis frequently exhibit muscle stiffness (spasticity) and rigid joints (arthrogryposis), particularly affecting their hands and feet. Other features that may occur in some include short stature, atypical head size (either abnormally large or small), a small jaw (micrognathia), cleft palate, involuntary eye movements (nystagmus), misaligned eyes (strabismus), heart problems, and seizures.

Inheritance:

Desmosterolosis follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must have mutations for the condition to manifest. Individuals with an autosomal recessive condition inherit one mutated gene copy from each parent, who are usually carriers without showing any symptoms themselves.