Intragenic deletion as a novel type of mutation in Wolman disease.
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ABSTRACT:
SUBMITTER: Lee TM
PROVIDER: S-EPMC3781170 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
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Intragenic deletion as a novel type of mutation in Wolman disease.
Lee Teresa M TM Welsh Mariko M Benhamed Sonia S Chung Wendy K WK
Molecular genetics and metabolism 20110914 4
Two clinically distinct disorders, Wolman disease (WD) and cholesteryl ester storage disease (CESD), are allelic autosomal recessive disorders caused by different mutations in lysosomal acid lipase (LIPA) which encodes for an essential enzyme involved in the hydrolysis of intracellular cholesteryl esters and triglycerides. We describe a case of lysosomal acid lipase deficiency in an infant with WD and report on a novel mutation type, intragenic deletion. ...[more]
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