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- Title
Characteristic craniofacial defects associated with a novel USP9X truncation mutation.
- Authors
Nagata, Namiki; Kurosaka, Hiroshi; Higashi, Kotaro; Yamaguchi, Masaya; Yamamoto, Sayuri; Inubushi, Toshihiro; Nagata, Miho; Ishihara, Yasuki; Yonei, Ayumi; Miyashita, Yohei; Asano, Yoshihiro; Sakai, Norio; Sakata, Yasushi; Kawabata, Shigetada; Yamashiro, Takashi
- Abstract
Germline loss-of-function mutations in USP9X have been reported to cause a wide spectrum of congenital anomalies. Here, we report a Japanese girl with a novel heterozygous nonsense mutation in USP9X who exhibited intellectual disability with characteristic craniofacial abnormalities, including hypotelorism, brachycephaly, hypodontia, micrognathia, severe dental crowding, and an isolated submucous cleft palate. Our findings provide further evidence that disruptions in USP9X contribute to a broad range of congenital craniofacial abnormalities.
- Subjects
CRANIOFACIAL abnormalities; JAPANESE people; NONSENSE mutation; HUMAN abnormalities; CLEFT palate; BRACHYCEPHALY
- Publication
Human Genome Variation, 2024, Vol 11, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-024-00277-w