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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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  5. Verloes A, "Blepharophimosis-mental retardation(BMR)syndromes : a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one Xlinked and one autosomal recessive", Am J Med Genet A, 140, pp.1285~1296 (2006)
  6. Okano S, "Genitopatellar syndrome : the first reported case in Japan", Hum Genome Var, 5, pp.8~ (2018)
  7. Radvanszky J, "Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome", Clin Genet, 91, pp.339~343 (2017)
  8. 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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