When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

Molecular Genetics and Metabolism
R BargalA Raas-Rothschild

Abstract

Mucolipidosis II (ML II) and Mucolipidosis type III (ML III) are autosomal recessive disorders of lysosomal hydrolases trafficking due to the deficiency of the multimeric enzyme, UDP-N-acetylglucosamine-1-phosphotransferase. The alpha/beta subunits encoded by the GNPTA gene is the catalytic subunit of the enzyme while the gamma recognition subunit is encoded by the GNPTAG gene. We report the molecular analysis of GNPTA in 21 families with ML II and 3 families with ML III. The ML II mutant genotypes included three splice-site mutations [IVS1-2A>G; IVS17+1G>A; IVS18+1G>A] in seven Palestinian, Israeli Arab-Muslims, and Turkish patients; a two base pair deletion [c.3503_4delTC] [corrected] in 11 patients from Israel, Turkey, and Ireland; two nonsense mutations [c.2533C>T (Q845X); c.3613C>T (R1205X)], in a Turkish and an Arab-Muslim patient from the Nablus area, respectively, and an insertion mutation [c.2916insT] in a patient from Nablus. The ML III mutant genotypes included a splice-site mutation [IVS17+6T>G] in two patients from Irish/Scottish origin who were compound heterozygous for a nonsense mutation [c.3565C>T (R1189X)] and the deletion mutation [c.3503_4delTC] [corrected] respectively. The third ML III patient from France ...Continue Reading

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