A Homozygous Microdeletion within ADAMTSL4 in Patients with Isolated Ectopia Lentis: Evidence of a Founder Mutation

摘要: PURPOSE The purpose of the study was to look for ADAMTSL4 mutations in a cohort German patients with isolated ectopia lentis from nonconsanguineous families. METHODS Mutation screening performed by PCR amplification coding exons and subsequent sequencing. RESULTS An identical homozygous deletion 20 bp sequence within exon 6 (NM_019032.4:c.759_778del20) identified eight individuals seven unrelated In screen 360 ethnically matched, unaffected individuals, two heterozygous mutation carriers were found. always accompanied haplotype, suggestive founder mutation. CONCLUSIONS results emphasize association null presence European population. Screening should be considered all lentis, or without family history. families, authors propose two-step diagnostic approach, starting an examination before sequencing entire region ADAMTSL4.