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

• Kim BR
• Han JH
• Shin JE
• Park MS
• Park KI
• Namgung R
• Lee HJ
• Lee JS
• Eun HS

• KMID: 2450196
• DOI: http://doi.org/10.3349/ymj.2019.60.4.395

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

1. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, et al. Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet. 2012; 90:282–289.

2. Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet. 2000; 37:520–524.

3. Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, et al. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. Am J Hum Genet. 2012; 90:290–294.

4. Lonardo F, Lonardo MS, Acquaviva F, Della Monica M, Scarano F, Scarano G. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting. Clin Genet. 2019; 95:253–261.

5. Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, et al. Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006; 140:1285–1296.

6. Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, et al. Genitopatellar syndrome: the first reported case in Japan. Hum Genome Var. 2018; 5:8.

7. Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, et al. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Clin Genet. 2017; 91:339–343.

8. Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, et al. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012; 33:1520–1525.

9. Kim HJ, Cha JH, Lee SJ, Park EA. A case of genitopatellar syndrome. Korean J Perinatol. 2005; 16:49–53.