{Reference Type}: Case Reports
{Title}: Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
{Author}: Ouyang L;Yang F;
{Journal}: Medicine (Baltimore)
{Volume}: 96
{Issue}: 52
{Year}: Dec 2017
{Factor}: 1.817
{DOI}: 10.1097/MD.0000000000009504
{Abstract}: <B>BACKGROUND: </B>Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP genes have been reported.<BR><B>METHODS: </B>A 14-month-old Chinese girl presented with prominent ocular proptosis, frontal bossing, craniosynostosis, plump anterior fontanel, growth retardation, osteopenia, and distinctive facial features that were strikingly similar to those in the original 2 cases.<BR><B>METHODS: </B>Whole-exome sequencing revealed a novel deletion variation in exons 5 to 8 of the P4HB gene, which was found to be heterozygous using fluorogenic quantitative-polymerase chain reaction.<BR><B>CONCLUSIONS: </B>This de novo deletion mutation in exons 5 to 8 of the P4HB gene advances our understanding of CLCRP1, expands the mutation spectrum of P4HB, and diversifies the cases reported for this condition.