논문KCI 등재
Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
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초록
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs,psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6Bgene mutation, which was identified using whole exome sequencing.
Abstract
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs,psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6Bgene mutation, which was identified using whole exome sequencing.
참고문헌 (9)
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- Simpson MA, "De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome", Am J Hum Genet, 90, pp.290~294 (2012)
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- Okano S, "Genitopatellar syndrome : the first reported case in Japan", Hum Genome Var, 5, pp.8~ (2018)
- Radvanszky J, "Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome", Clin Genet, 91, pp.339~343 (2017)
- Campeau PM, "The KAT6B-related disorders genitopatellar syndrome and Ohdo", SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms, 2012, pp.33, 1520~1525
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