Case
SR479
Student Mode
Alpha Mannosidosis (IB)
Female
Female
Hidden
SR479
Student Mode
Alpha Mannosidosis (IB)
Female
Female
History
This 45 year old woman was found to have hearing loss at age four and has worn hearing aids since that time. She developed a peripheral neuropathy as an adult as well as cerebellar dysfunction manifesting as ataxia. Her visual problems did not develop until her 5th decade of life.
Pedigree
| Age at visit: 45 years |
| Age at visit: 46 years |
| Age at visit: 46 years (Visit 2) |
| Age at visit: 47 years |
| Age at visit: 49 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Alpha Mannosidosis | MAN2B1 | IVS14+1 G>C | Ser103Leu TCG>TTG | AR |
Disease:
Gene:
Allele 1:
IVS14+1 G>C
Allele 2:
Ser103Leu TCG>TTG
Inheritance:
AR