例如:"lncRNA", "apoptosis", "WRKY"

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

Eur J Med Genet. 2018 May;61(5):243-247. Epub 2017 Dec 06
Tomoko Uehara 1 , Toshiki Takenouchi 2 , Rika Kosaki 3 , Kenji Kurosawa 4 , Seiji Mizuno 5 , Kenjiro Kosaki 6
Tomoko Uehara 1 , Toshiki Takenouchi 2 , Rika Kosaki 3 , Kenji Kurosawa 4 , Seiji Mizuno 5 , Kenjiro Kosaki 6
+ et al

[No authors listed]

Author information
  • 1 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • 2 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • 3 Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
  • 4 Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • 5 Department of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan.
  • 6 Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@keio.jp.

摘要


Recently, 7 patients with de novo constitutional non-synonymous mutations in the CDK13 gene were ascertained through a trio exome analysis of a large cohort of 610 patients with congenital cardiac diseases. Despite another report describing 9 additional patients, the clinical spectrum of this condition has yet to be defined. Herein, we report 3 patients with heterozygous constitutional CDK13 mutations, who were ascertained through exome analysis of children with intellectual disability and minor anomalies, who lacked cardiac anomalies. Two patients had a c.2149G > A, p.Gly717Arg mutation, and one had a c.2525A > G, p. Asn842Ser mutation. A review of the previously described patients and those described herein has enabled the following points to be clarified. First, congenital heart diseases are not an essential feature (13/19). Second, nasal features may help syndromic recognition (14/16). Third, widely spaced and peg-shaped teeth may represent a previously unappreciated diagnostic clue for this newly identified syndrome. Here, we show that p.Gly717Arg represents a hotspot in addition to p.Asn842Ser. We suggest that this CDK13-related disorder may represent a clinically recognizable syndrome.

KEYWORDS: CDK13, Congenital cardiac diseases, Intellectual disability, Widely spaced and peg-shaped teeth