A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature

Table 1 Genetic variation results by WES

Gene	Nucleotide variation	Location	Disease	Variation classification	Genotype	variation source
ADAMTSL4	NM_019032.5 exon14 c.2270dupG p.Gly758 Trpfs*59	Chr1: 150530506	isolated ectopia lentis type 2, AR; Pupillary lens ectopic, AR	Pathogenic	Heterozygosis	Father
ADAMTSL4	NM_019032.5 exon13 c.2110A > G p.Ser704Gly	Chr1: 150530032		Unknown	Heterozygosis	Mother

ISSN: 1752-1947