Prepair 1000+

Gene: CTSA

Green List (high evidence)

Lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in protective protein/cathepsin A. All patients have coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. 3 clinical forms described: early infantile form is associated with fetal hydrops, oedema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth restriction, cardiac involvement, and rare occurrence of neurologic signs. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, intellectual impairment, neurologic deterioration, absence of visceromegaly. The majority of reported patients belong to the juvenile/adult group and are mainly of Japanese origin

Overall, variable age of onset, including severe early infantile presentations.

Reported causal variants include missense, nonsense, frameshift, and splice-altering variants.
Multiple animal models and functional studies present.

Created: 24 Oct 2024, 12:10 p.m. | Last Modified: 24 Oct 2024, 12:10 p.m.

Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosialidosis MIM#256540

Publications

• 8968752 18391110 7759227 6812049 28603679 8838767 19466716 16674934 23915561 26036949 24769197 28555253 15110321 27243974