ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Miriam BauwensAlejandro GarantoRiccardo SangermanoSarah NaessensNicole WeisschuhJulie De ZaeytijdMubeen KhanFrançoise SadlerIrina BalikovaCaroline Van CauwenberghToon RosseelJim BauwensKim De LeeneerSarah De JaegereThalia Van LaethemMeindert De VriesKeren CarssGavin ArnoAna FakinAndrew R WebsterThomy J L de Ravel de l'ArgentièreYves SznajerMarnik VuylstekeSusanne KohlBernd WissingerTimothy CherryRob W J CollinFrans P M CremersBart P LeroyElfriede De BaerePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Noncoding pathogenic variants, novel structural variants, and a common hypomorphic allele of the ABCA4 gene explain the majority of unsolved cases with ABCA4-associated disease, rendering this retinopathy a model for missing heritability in autosomal recessive disorders.