Phenotype expansion and development in Kosaki overgrowth syndrome.

Autor: Gawliński P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Pelc M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Jurkiewicz E; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland., Gambin T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Institute of Computer Science, Warsaw University of Technology, Warsaw, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Różdżyńska-Świątkowska A; Anthropology Laboratory, Children's Memorial Health Institute, Warsaw, Poland., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Coban-Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Guilbride DL, Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas., Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2018 Apr; Vol. 93 (4), pp. 919-924.
DOI: 10.1111/cge.13192
Abstrakt: 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.
(© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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