Mucolipidosis Type 4: MCOLN1 Recurrent Mutations

Alternate test name

ML IV; ML4; Sialolipidosis

Gene name / Alternate gene name

MCOLN1

Protein

Mucolipin 1

Lab area

Genome Diagnostics - Molecular Genetics

Method and equipment

Targeted analysis of recurrent mutations

Expected turn-around time

Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks

Specimen type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Mucolipidosis Type 4: MCOLN1 Recurrent Mutations - requisition

Background and clinical significance

Mucolipidosis IV (MLP4) is a neurodegenerative lysosomal storage disorder characterized by severe psychomotor delay, ophthalmological abnormalities including corneal clouding, retinal degeneration and strabismus, elevated blood gastrin and iron deficiency. Most patients present at 2-3 years of age and remain in an apparent steady-state for the next 2-3 decades. MLP4 is an AR disorder caused by mutations in the MCOLN1 gene, located on chromosome 19 (19p13.3). Two mutations in the MCOLN1 gene accounrt for 95% of the mutations seen in AJ individuals affected with MLP4.

See related information sheet: Ashkenazi Jewish Screening Panel

Disease condition

Mucolipidosis Type 4 (part of the Ashkenazi Jewish screening panel)