Phenotype expansion and development in Kosaki Overgrowth Syndrome

Abstract

We expand the KOGS phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the PDGFRB c.1751C>G, p.(Pro584Arg) mutation. 18 of these symptoms are unique to our patient, the remaining 6 are shared with other patients. Of the 24 unreported features overall, 6 show marked phenotype evolution and varying time of onset. The triangular face detected at 14 months and long palpebral fissures with lateral ectropion at 4 years are present in other members of the cohort. The remaining 4 are unique to Patient 5: pronounced macrocephaly from birth, increasingly triangular anterior skull from 14 months, camptodactyly, emerging at 4 years and worsening joint contractures from 6 years. Compilation of all new symptoms reported here with published clinical data further identifies at least 18 clinical parameters common to all cases to date, encompassing both known KOGS-associated PDGFRB mutations. We therefore propose a set of 18 core KOGS symptoms, with 16 present in early childhood. These results should also impact diagnostic/prognostic scope, intervention and outcome potential for KOGS patients, particularly for developmentally progressive conditions such as scoliosis and myofibroma.

We expand the Kosaki Overgrowth Syndrome by over 70% to include 24 unreported symptoms, in a first male patient, the third overalll associated with the PDGFRB c.1751C>G, p.(Pro584Arg) mutation

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