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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

  • Kim, Soo Jin (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Maeng, Se Hyun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sohn, Young Bae (Department of Medical Genetics, Ajou University School of Medicine) ;
  • Kim, Su-Jin (Department of Pediatrics, Myongji Hospital, Kwandong University College of Medicine) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2012.08.29
  • 심사 : 2012.09.25
  • 발행 : 2013.08.15

초록

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs$^*34$). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

키워드

참고문헌

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피인용 문헌

  1. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome vol.59, pp.6, 2013, https://doi.org/10.1038/jhg.2014.25
  2. Kabuki syndrome: clinical and molecular characteristics vol.58, pp.9, 2015, https://doi.org/10.3345/kjp.2015.58.9.317
  3. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 vol.37, pp.9, 2013, https://doi.org/10.1002/humu.23026
  4. A novel KMT2D mutation resulting in Kabuki syndrome: A case report vol.14, pp.4, 2013, https://doi.org/10.3892/mmr.2016.5683
  5. Congenital heart defects in molecularly proven Kabuki syndrome patients vol.173, pp.11, 2013, https://doi.org/10.1002/ajmg.a.38417
  6. Orthodontic Treatment of a Kabuki Syndrome Patient vol.55, pp.8, 2013, https://doi.org/10.1177/1055665618765775
  7. Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome vol.10, pp.1, 2013, https://doi.org/10.1055/s-0040-1701645