Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A Awandare, Robert J Morell, Ekaterini Tsilou, Amanda G Noyes, Laura A G Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M Leal, Hela Azaiez, Carmen C Brewer, Sheikh Riazuddin, Robert Hufnagel, Michael Hoa, Wadih M Zein, J Karl de Dios, Thomas B Friedman
Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.3: LRP2: c.5005A>G, p.(Asn1669Asp) and c.149C>G, p.(Thr50Ser). In Family 2, two sisters were found to be compound heterozygous for LRP2 variants, p.(Tyr3933Cys) and an experimentally confirmed c.7715+3A>T consensus splice-altering variant...
February 19, 2023: Clinical Genetics