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Structural variants create new topological-associated domains and ectopic retin...
de Bruijn, Suzanne E.; Fiorentino, Alessia; Ottaviani, Daniele; Fanucchi, Stephanie; Melo, Uirá S.; Corral-Serrano, Julio C.; Mulders, TimoThe cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated in families lacking a molecular diagnosis. A refined locus for adRP on Chr17q22 (RP17) was delineated through genotyping and genome sequencing, leading to the identification of structural variants (SVs) that segregate with disease. Eight different complex SVs were characterized in 22 adRP-a...
Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abno...
Walker, Christopher P.; Pessoa, Andre L. S.; Figueiredo, Thalita; Rafferty, Megan; Melo, Uirá S.; Nóbrega, Paulo R.; Murphy, Nicholas; Kok, FernandoBackground: Dysregulation of the inositol cycle is implicated in a wide variety of human diseases, including developmental defects and neurological diseases. A homozygous frameshift mutation in IMPA1, coding for the enzyme inositol monophosphatase 1 (IMPase), has recently been associated with severe intellectual disability (ID) in a geographically isolated consanguineous family in Northeastern Brazil (Figueredo...