Mucolipidosis IV

Mucolipidosis IV (MLIV) is a progressive neurological lysosomal storage disease that usually is evident during the first year of life, and presents with mental retardation, corneal opacities, and delayed developmental milestones. Ocular findings also include retinal degeneration, myopia, strabismus, and photophobia. Neurological symptoms include hypotonia and pyramidal tract signs. There are cytoplasmic inclusions (“storage bodies”) in almost every cell type of the patients. Most affected individuals reach a maximal developmental age of 12-15 months. Mucolipidosis IV is due to mutations in the MCOLN1 gene and more than 80% of reported patients are of Ashkenazi Jewish descent. Two common mutations (IVS3-2 A>G and a 6,450bp deletion) account for 95% of cases in the Ashkenazi Jewish population. MLIV is rare in the general population.

Tests Available

Forms and Documents

Test Details

MCOLN1
  • Confirmation of a clinical diagnosis
  • Carrier testing in unaffected family members
  • Prenatal diagnosis
  • Capillary Sequencing

Ordering

2432
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81290x1, 81479x1
No
Yes
  • 272.7 Lipidoses (Fabry Disease)
* For price inquiries please email zebras@genedx.com

References

  1. Bargal (2000) Nat Genet 26, 118
  2. Sun (2000) Hum Mol Genet 9, 2471
  3. Bassi (2000) Am J Hum Genet 67, 1110
  4. Bach (2005) Hum Mutat 26(6):591
  5. Dobrovolny (2007) Am J Ophthalmol 143:663-671
  6. Bargal (2001) Hum Mutat 17:397-402
  7. Slaugenhaupt (2002) Curr Molec Med 2:445-450