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NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) AND Lysosomal acid lipase deficiency

Significance: Pathogenic/Likely pathogenic
ClinVar: RCV000000096

Variant: NM_000235.4(LIPA):c.599T>C (p.Leu200Pro)

Type: Variant
Allele: NM_000235.4(LIPA):c.599T>C (p.Leu200Pro) 15116
Gene:
Type: single nucleotide variant
Location: Chr10: 89225168 - assembly GRCh38
Chr10: 90984925 - assembly GRCh37
References: dbSNP: 121965086
OMIM: 613497.0001
UniProtKB: P38571#VAR_004250

Condition

Disease: Lysosomal acid lipase deficiency

Citations

    Maslen and Illingworth (1993) and Maslen et al. (1995) found the L179P mutation in 2 sibs with cholesteryl ester storage disease (CESD). In these sibs the L179P mutation, inherited from the mother, was found in compound heterozygosity with a splice site mutation that resulted in skipping of exon 8 of lysosomal acid lipase (613497.0002). Maslen et al. (1995) compared the phenotypes of other patients carrying the L179P or the splice site mutation described by them and concluded that the L179P mutant allele apparently does not make a substantial contribution to cholesteryl ester hydrolase activity.
PMID:
    In a proband with Wolman disease (278000) from a nonconsanguineous family, Anderson et al. (1994) detected a T-to-C transition at nucleotide 639 of the LIPA gene that resulted in a nonconservative missense mutation, leu179 to pro (L179P). This mutation was found in compound heterozygosity with a single-base insertion resulting in a null allele (613497.0004). The proband had had 2 older sibs with Wolman disease. Anderson et al. (1994) noted that the L179P mutation is located 26 amino acids from the predicted active site of lysosomal acid lipase and was expected to disrupt the alpha-helical structure in a highly conserved region of the protein.
PMID:8146180
    Maslen and Illingworth (1993) and Maslen et al. (1995) found the L179P mutation in 2 sibs with cholesteryl ester storage disease (CESD). In these sibs the L179P mutation, inherited from the mother, was found in compound heterozygosity with a splice site mutation that resulted in skipping of exon 8 of lysosomal acid lipase (613497.0002). Maslen et al. (1995) compared the phenotypes of other patients carrying the L179P or the splice site mutation described by them and concluded that the L179P mutant allele apparently does not make a substantial contribution to cholesteryl ester hydrolase activity.
PMID:8598644