METHODS: 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.
METHODS: 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.
CONCLUSIONS: 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.