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Early-Onset Wolman Disease in an Infant with Novel Compound Heterozygous LIPA Variants
Background:
Wolman disease is a rare autosomal recessive lysosomal storage disorder caused by lysosomal acid lipase deficiency, with fewer than 150 cases reported. It often presents in infancy with hepatosplenomegaly and adrenal calcification.
Methods:
We report a 2-month-old female with abdominal distension, vomiting, hepatosplenomegaly, and bilateral adrenal calcification.
Results:
Laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia, and elevated liver enzymes. Genetic testing revealed novel compound heterozygous LIPA variants: a paternal frameshift (c.731_732del, p.Gly244Aspfs*24) and a maternal missense (c.605C>G, p.Pro202Arg).
Conclusions:
This case expands the LIPA variant spectrum and emphasizes the importance of combining clinical data for early diagnosis and counseling.
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Pleiotropy
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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

