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Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Shinji TakeyariTakuo KubotaKei MiyataKenichi YamamotoHirofumi NakayamaKeiko YamamotoYasuhisa OhataTaichi KitaokaKumiko YanagiTadashi KanameKeiichi Ozono
Published in: American journal of medical genetics. Part A (2018)
Cole-Carpenter syndrome is a rare skeletal dysplasia associated with low-bone mass or an osteogenesis imperfecta (OI)-like syndrome. Only 3 and 6 variants in SEC24D have been reported in patients with Cole-Carpenter syndrome type 2 and autosomal recessive OI, respectively. We describe a 15-year-old Japanese boy with short stature of the short-trunk type and craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. These features were consistent with a diagnosis of Cole-Carpenter syndrome. He had low-bone mineral density and basilar impression. Whole exome sequencing analysis identified biallelic variants in SEC24D (p.Arg484* and p.Arg313His) in the patient. We will report a patient with compound heterozygous variants of SEC24D causing Cole-Carpenter syndrome type 2.
Keyphrases
  • case report
  • bone mineral density
  • copy number
  • postmenopausal women
  • early onset
  • dna methylation
  • autism spectrum disorder
  • genome wide
  • optical coherence tomography