WHOLE EXOME SEQUENCING OF A PAKISTANI FAMILY SEGREGATING AUTOSOMAL RECESSIVE GAUCHER DISEASE TYPE I
DOI:
https://doi.org/10.69656/pjp.v22i1.1925Keywords:
Bone Marrow, Gaucher Disease, GBA1 Gene, Genetic Analysis, Haematological TestsAbstract
Background: Gaucher Disease (GD) is a rare inherited lysosomal storage disorder caused by mutations in the GBA1 gene on chromosome 1q21. This study aimed to perform clinical and genetic evaluation of two patients with clinically suspected Gaucher’s disease and to identify the underlying pathogenic GBA1 variants. Methods: Two patients from a consanguineous Pakistani family were admitted with developmental delay and hypotonia. Detailed physical examination was performed. Complete blood count (CBC), Liver Function Tests (LFTs), Inflammatory markers, Erythrocyte Sedimentation Rate (ESR), and radiological procedures including ultrasound and MRI were advised. Later, Whole Exome Sequencing (WES) followed by DNA Sanger sequencing was performed. Results: Analysis of complete blood count demonstrated features of microcytic, hypochromic anaemia in the patients. No abnormalities were observed in liver function tests or erythrocyte sedimentation rate. Physical examination revealed hypotonia. Radiological analysis showed hepatosplenomegaly. Genetic analysis identified a homozygous missense mutation, c.1448T>C; p.Leu483Pro, in the GBA gene. Conclusion: This study confirms Gaucher disease in two Pakistani patients with a homozygous GBA1 variant and highlights the importance of integrating clinical assessment with genetic testing for accurate diagnosis.
Pak J Physiol 2026;22(1):42–5, DOI: https://doi.org/10.69656/pjp.v22i1.1925
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Copyright (c) 2026 Muhammad Imran, Maryam Shafaq, Nida Shafi, Amna Mahmood, Syed Khalil Akbar, Shahida Awais, Syed Irfan Raza
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