ABCMdb

PMID: 24791140

Jin X, Qu LH, Meng XH, Xu HW, Yin ZQ
Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.
Mol Vis. 2014 Apr 26;20:553-60. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

81 ABCA4 p.Phe642Ile ABCA4 p.Phe642Ile ABCA4 p.Phe642Ile After filtering against these databases, four variants that might be associated with RDs diseases were left: The first was a heterozygous nucleotide deletion variation c.942_944delGAA in IMPDH1, which was predicted to result in lysine deletion at position 314 (p.Lys314del p.K314del) in the proband of Family-012; the second was a homozygous single-nucleotide-polymorphic site c.1924T>A in ABCA4 leading to amino acid substitution of phenylalanine for isoleucine at position 642 (p.Phe642Ile p.F642I) in the proband of Family-024; the third and fourth were compound heterozygous mutations of c.272A>G and c.196C>T in NMNAT1 that caused glutamic acid substitution for glycine at position 91 (p.Glu91Gly p.E91G) and amino acid substitution of arginine for tryptophan at position 66 (p.Arg66Trp p.R66W) in the proband of Family-035. Login to comment 120 ABCA4 p.Phe642Ile Thus, in total, we have identified four mutants in three Chinese families associated with adRP, STGD, and LCA, including a deletion mutation encoding p.K314del in IMPDH1 and three missense mutations encoding p.F642I in ABCA4, p.E91G, and p.R66W in NMNAT1 with gene panel-based NGS. Login to comment 125 ABCA4 p.Phe642Ile Sample Disease Inheritance mannera Gene Exon Nucleotide change Amino acid change Mutation typeb SIFT/ Polyphen2c Family-012 RP AD IMPDH1 10 c.942_944delGAA p.K314del het N.P. Family-024 STD AR ABCA4 13 c.1924T>A p.Phe642Ile hom 0.03/ 0.278 Family-035 LCA AR NMNAT1 3 c.272A>G p.Glu91Gly het 0.2/0.745 NMNAT1 3 c.196C>T p.Arg66Trp het N.P a Inheritance manner: AR (autosomal recessive), AD (autosomal dominant);b Mutation type: het (heterozygous), hom (homozygous); c SIFT/ Polyphen2: N.P. (not predicted) APPENDIX 1. Login to comment