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

Am J Med Genet A. 2018 Dec;176(12):2882-2886. doi: 10.1002/ajmg.a.40643. Epub 2018 Nov 21.

Abstract

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.

Keywords: SEC24D; Cole-carpenter syndrome; osteogenesis imperfecta.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Brain / abnormalities
  • Brain / diagnostic imaging
  • Craniosynostoses / diagnosis*
  • Craniosynostoses / genetics*
  • DNA Mutational Analysis
  • Exome Sequencing
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics*
  • Genetic Association Studies
  • Heterozygote*
  • Humans
  • Hydrocephalus / diagnosis*
  • Hydrocephalus / genetics*
  • Japan
  • Male
  • Mutation*
  • Osteogenesis Imperfecta / diagnosis*
  • Osteogenesis Imperfecta / genetics*
  • Phenotype
  • Vesicular Transport Proteins / genetics*

Substances

  • SEC24D protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Cole Carpenter syndrome