Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

摘要

For each family, the specific IRD phenotype diagnosed is mentioned above each pedigree (LCA, Leber Congenital Amaurosis; RCD, Rod Cone Degeneration). Mildly syndromic families C and K are indicated with a hashtag (#). Affected male and female subjects are represented with black squares or circles, respectively. Probands are indicated by a black arrow. The five unaffected sisters in family L are indicated with the superscript 5–10. Novel variants are indicated in bold. When performed, segregation of the INPP5E variants in other family members is shown. First cousin marriage is indicated by a double line. All presented variants refer to the INPP5E transcript {"type":"entrez-nucleotide","attrs":{"text":"NM_019892.5","term_id":"972781520","term_text":"NM_019892.5"}}NM_019892.5.