ABCMdb

PMID: 25632026

Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabes JP, Noto D, Tarugi P, Kawashiri MA, Nohara A, Yamagishi M, Risman M, Deo R, Ruel I, Shendure J, Nickerson DA, Wilson JG, Rich SS, Gupta N, Farlow DN, Neale BM, Daly MJ, Kane JP, Freeman MW, Genest J, Rader DJ, Mabuchi H, Kastelein JJ, Hovingh GK, Averna MR, Gabriel S, Boileau C, Kathiresan S
Exome sequencing in suspected monogenic dyslipidemias.
Circ Cardiovasc Genet. 2015 Apr;8(2):343-50. doi: 10.1161/CIRCGENETICS.114.000776. Epub 2015 Jan 27., [PubMed]

Sentences

No. Mutations Sentence Comment

112 ABCA1 p.Asn1948Ser An analysis using these updated phenotypes identified a candidate variant in LDLR (p.E228K, also known as FH Modena, previously shown to be pathogenic25 ) that was subsequently confirmed to Table.ߓ Genetic Etiologies Identified From Exome Sequencing Family (Trait) Gene Genomic position* Reference allele Alternate allele Effectߤ Notes Genetic etiology discovered during initial exome sequencing analysis A4 (high LDL) APOB 2:21229554 C T p.A3396T ߥ A9 (high LDL) PCSK9 1:55509689 T A p.S127R &#a7; B2 (low LDL) APOB 2:21233022 T A p.K2240* ৷ B13 (low LDL) APOB 2:21229005 - G p.T3579Hfs*34 # C1 (low HDL) ABCA1 9:107553287 T C p.N1948S ** Genetic etiology discovered from follow-up analysis A1 (high LDL) APOE 19:45412048 CTC - p.L167del ߥߥ A10 (high LDL) APOE 19:45412048 CTC - p.L167del ߥߥ A13 (high LDL) LIPA 10:90982268 C T Disruption of donor splice site ߥߥ Genetic etiology discovered based on phenotypic refinement within the family A7 (high LDL) LDLR 19:11216264 G A p.E228K &#a7;&#a7; HDL indicates high-density lipoprotein; and LDL, low-density lipoprotein. Login to comment