ABCMdb

PMID: 22929031

Lanthaler B, Steichen-Gersdorf E, Kollerits B, Zschocke J, Witsch-Baumgartner M
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.
Eur J Hum Genet. 2012 Aug 29. doi: 10.1038/ejhg.2012.169., [PubMed]

Sentences

No. Mutations Sentence Comment

40 ABCA1 p.Lys1587Arg These positions correspond to amino-acid residues 112 and 158 of the previous nomenclature.31 SNP genotyping for variants in the genes ABCA1 (NP_005493.2: p.Lys1587Arg; minor allele count: A ¼ 0.4113/900), LCAT (NP_001898.1: p.His173Arg), CETP (NP_000069.2: p.Val422Ile), LDLR, ApoC-III, and MTHFR (NP_005948.3: p.Ala222Val) was performed with the ABI SDS 7000 probes and primers that are part of predesigned assays from Applied Biosystems, Carlsbad, CA, USA (TaqMan SNP Genotyping Assays) (Table 1). Login to comment 47 ABCA1 p.Lys1587Arg ABCA1 p.Lys1587Arg RESULTS Description of SLOS patients The patients in the first study group were diagnosed by quantification of sterols using gas chromatography and mass spectrometry as mentioned.13 Phenoytpe severity was characterised by the scoring system mentioned earlier.2 The number of persons analysed in the association studies varied depending on availability of variables Table 1 Variants used for association study in SLOS patients Gene reference sequence SNP ref. TaqMan SNP genotyping assay Presumed consequence of SNP MTHFR NM_005957.4 p.Ala222Val rs1801133 C_1202883 Induces increased enzyme activity, significantly increased in mothers of children with cleft lip and cleft palate15-17 LCAT NM_001907.2 p.His173Arg rs2301246 C_8731782 Esterification of extracellular cholesterol in HDL leads to decrease of plasma HDL-cholesterol18 ApoC-III NM_000040.1 c.340G4C rs5128 C_8907537 Association with LDL- and HDL-cholesterol and ApoA-I concentrations in cord blood19 ABCA1 NM_005502.3 p.Lys1587Arg rs2230808 C_2741104 Lys1587 is associated with decreased plasma HDL- and LDL-cholesterol mainly in women20-22 CETP NM_000078.2 p.Val422Ile rs5882 C_790057 Influences the CETP expression, Ile422 is associated with low CETP and high HDL-cholesterol14 (concentrations of relevant metabolites cholesterol, 7-dehydrocholesterol, and 8-dehydrocholesterol, genotypes for patients and parents). Login to comment