Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

Chitra Ankleshwaria*, Mehul Mistri, Ashish Bavdekar, Mamta Muranjan, Usha Dave, Parag Tamhankar, Varun Khanna, Eresha Jasinge, Sheela Nampoothiri, Suresh Edayankara Kadangot, Frenny Sheth, Sarita Gupta, Jayesh Sheth

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    16 Citations (Scopus)


    Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidase deficiency due to mutations in the GBA gene. Study was performed in 33 unrelated patients with low β-glucosidase activity in leukocytes and/or fibroblasts. The exons and exon-intron boundaries of the GBA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and were looked up in public databases, and in silico analysis was carried for novel mutations. We identified two novel missense mutations G289A (c.866G>C) and I466S (c.1397T>G) in exons 7 and 10, respectively, in two (6.06%) patients that destabilize the protein structure. L444P (c.1448T>C) was the most common mutation identified in 20/33 (60.60%) non-neuronopathic and 1/33 (3.03%) sub-acute neuronopathic form based on clinical presentation at the time of investigation. Other nine rare mutations were: R463C (c.1504C>T), R395C (c.1300C>T), R359Q (c.1193G>A), G355D (c.1181G>A), V352M (c.1171G>A) and S356F (c.1184C>T) found in each patient (18.18%). Compound heterozygous mutation L444P (c.1448T>C)/R496C (c.1603C>T) in exon 10/11 and L444P (c.1448T>C)/R329C (c.1102C>T) were observed in exon 10/8 in one each patient (6.06%). Two patients (6.06%) from Sri Lanka showed E326K (c.1093G>A) mutation in exon 8. We conclude that L444P is the most common mutant allele with exons 8 and 10 as the hot spot region of GBA gene observed in Indian GD patients.

    Original languageEnglish
    Pages (from-to)223-228
    Number of pages6
    JournalJournal of Human Genetics
    Issue number4
    Publication statusPublished - Apr 2014

    Bibliographical note

    Corrigendum can be found in Journal of Human Genetics volume 60, p285,


    • Gaucher disease
    • GBA gene
    • India
    • L444P
    • LSD mutation


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