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A novel variant in the LIPA gene associated with distinct phenotype

Balkan Journal of Medical Genetics
Volume 25 (2022): Issue 1 (June 2022)
By:
Open Access
|Mar 2023

Figures & Tables

Figure 1

Liver histology of patient 3. 1A. Foamy macrophages with pyknotic nuclei loaded in the portal space and uniform microvesicular steatosis with accompanying marked fibrosis. (Paraffin section stained with Masson’s trichrome, x200). 1B. Histological picture of liver steatosis with evenly distributed, Sudan IV positive microvesicles in hepatocytes and crystalloid clefts of cholesteryl ester that are only hinted at due to light birefringence. (Frozen section stained with Sudan IV, x25). 1C. Birefringent, anisotropic crystals are seen under polarized light on frozen sections stained by the Sudan IV method. Maltese cross-type birefringence is visible here and there. (Frozen section stained with Sudan IV, polarized light, x40).
Liver histology of patient 3. 1A. Foamy macrophages with pyknotic nuclei loaded in the portal space and uniform microvesicular steatosis with accompanying marked fibrosis. (Paraffin section stained with Masson’s trichrome, x200). 1B. Histological picture of liver steatosis with evenly distributed, Sudan IV positive microvesicles in hepatocytes and crystalloid clefts of cholesteryl ester that are only hinted at due to light birefringence. (Frozen section stained with Sudan IV, x25). 1C. Birefringent, anisotropic crystals are seen under polarized light on frozen sections stained by the Sudan IV method. Maltese cross-type birefringence is visible here and there. (Frozen section stained with Sudan IV, polarized light, x40).

Genetic, hematologic and biochemical findings in four Serbian patients with chronic hepatosplenomegaly and variants detected in the LIPA gene

Patient 1Patient 2Patient 3Patient 4
LIPA gene variant #1c.419G>A (p.Trp140Ter)c.419G>A (p.Trp140Ter)c.851C>T (p.Ser284Phe)c.851C>T (p.Ser284Phe)
LIPA gene variant #2c.851C>T (p.Ser284Phe)c.851C>T (p.Ser284Phe)c.851C>T (p.Ser284Phe)c.851C>T (p.Ser284Phe)
Enzyme activity0.14 nmol/punch/hr (normal >0.1)Not available0.32 nmol/punch/h (normal >0.1)Not performed
Total cholesterol (mmol/L)3.1 - 4.44.13 - 4.32.4 - 5.443.56 - 5.12
LDL cholesterol (mmol/L)2.04 - 2.62.66 - 2.91.35 - 4.472. 44 - 3.9
HDL cholesterol (mmol/L)0.14 - 0.420.13 - 0.140.23 - 0.730.07 - 0.51
TG (mmol/L)1.34 - 6.62.94 - 3.180.61 - 1.631.7 - 3.22
AST (IU/L)61 - 153109 - 12855 - 20060 - 154
ALT (IU/L)49 - 9850 - 7640 - 10538 - 102
Hemoglobin (g/L)107-12692-11580-11875-127
WBC count3.65 - 5.75.4 -5.82.66 - 14.42.6 - 8.54
Platelet count57.7 -20314 - 20473 - 39966 - 406
ACE (IU/L)120 - 223NDNDND
Chitotriosidase (nmol/ml/hr)2106 - 8083ND10805ND
Oxysterols (mcmol/L)0.597 (normal < 0.05)NDNDND
DOI: https://doi.org/10.2478/bjmg-2022-0010 | Journal eISSN: 2199-5761
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Language: English
Page range: 93 - 100
Published on: Mar 1, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
lysosomal acid lipase deficiency,
variant of uncertain significance
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2023 A. Sarajlija, L. Armengol, A. Maver, I. Kitic, D. Prokic, M. Cehic, M.S. Djuricic, B. Peterlin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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