Yonsei Med J.  2019 Apr;60(4):395-398. 10.3349/ymj.2019.60.4.395.

Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Affiliations
  • 1Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • 2Division of Neonatology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. HSEUN@yuhs.ac
  • 3Division of Clinical Genetics, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.

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 KAT6B gene mutation, which was identified using whole exome sequencing.

Keyword

Genitopatellar syndrome; KAT6B gene

MeSH Terms

Contracture
Exome
Female
Humans
Infant
Korea*
Lower Extremity

Figure

  • Fig. 1 Dysmorphic facial neck features, genital anomalies, and musculoskeletal anomalies: The patient showed small palpebral fissures, broad nose, low set and dysplastic auricles. She also had hypertrophy of the labia minora and clitomegaly, bilateral hip contractures, fixed flexion contracture of the right knee, and club feet.

  • Fig. 2 Chromatogram of Sanger sequencing revealed a p.Gln1515Ter (c.4543C>T) mutation in the patient's KAT6B gene.


Reference

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