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Clin Genet. 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192.

Phenotype expansion and development in Kosaki overgrowth syndrome.

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Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
Institute of Computer Science, Warsaw University of Technology, Warsaw, Texas.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland.
Texas Children's Hospital, Houston, Texas.


We expand the Kosaki overgrowth syndrome (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. Eighteen of these symptoms are unique to our patient, the remaining six 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.


Kosaki overgrowth syndrome; PDGFRB gene mutation; developmental progression; extended phenotype; rare genetic disorder; whole exome sequencing


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