Mucopolysaccharideosis, Gaucher, Fabry

Gene: MCOLN1

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis type IV

Comment on list classification: Reviewed internally. This is a confirmed DD gene for mucolipidosis IV and seems to have multiple mutations reported on OMIM. Some of these seem to be founder mutations in the Ashkenazi population (see below from OMIM), but there is also evidence in additional populations/ethnicities. PMID:10973263 reports a homozygous mutation in the gene in a patient with Arab-Druze ethnicity, PMID: 15523648 describes a patient of Canadian English/Scottish origin, and PMID: 17239335 describes "a white female with no known Jewish ancestors or consanguinity between the parental families”. This is therefore evidence in more than 3 unrelated families/cases.

Created: 4 Mar 2016, 4:46 p.m.