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Genitopatellar syndrome: the first reported case in Japan
Satomi Okano1,2, Akie Miyamoto2, Ikue Fukuda2
11Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan.
Human Genome Variation
|June 15, 2018
Summary
Genitopatellar syndrome (GPS) is a rare genetic disorder. This study identifies a new mutation in the KAT6B gene associated with typical GPS in a Japanese patient.
Area of Science:
- Genetics
- Rare Diseases
- Molecular Biology
Background:
- Genitopatellar syndrome (GPS) is a rare genetic disorder.
- Characterized by absent patellae, limb contractures, developmental delay, and genitourinary anomalies.
Observation:
- An 18-year-old Japanese female presented with symptoms consistent with Genitopatellar syndrome.
- Genetic analysis revealed a novel heterozygous truncating mutation in exon 17 of the KAT6B gene (c.3603_3606 del, p.Arg1201fs).
Findings:
- This is the first documented case of typical Genitopatellar syndrome in an individual of Japanese descent.
- The identified KAT6B mutation represents a novel genetic cause for GPS.
Implications:
- This finding expands the known spectrum of KAT6B mutations associated with Genitopatellar syndrome.
- Further research into this mutation may elucidate the pathogenic mechanisms underlying GPS clinical manifestations.
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