Comorbidity of autosomal recessive diseases with developmental delay: а clinical case

Abstract

   Genetic diseases combined in a single patient can cause unusual and complex clinical manifestations that may have overlapping symptoms or different composite phenotypes. This article reviews a clinical case of comorbidity of two autosomal recessive diseases in a patient born in a consanguineous marriage. Full-exome sequencing revealed variants with unknown clinical significance – c.3585+1G>A (p.?) in the KIDINS220 associated with autosomal recessive ventriculomegaly and arthrogryposis, and the c.275A>C (p.Gln92Pro) in the CA2 associated with autosomal recessive type 3 osteopetrosis with renal tubular acidosis. Due to the overlapping symptoms described for these conditions (ventriculomegaly, hepatosplenomegaly, anemia, retinopathy, growth and developmental delay), Proband and his parents have been assigned to Sanger sequencing. We provide reasons for the reclassification of one of these genetic variants with increasing pathogenicity class.