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

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 inSEC24D (p.Arg484* and p.Arg313His) in the patient. We will report a patient with compound heterozygous variants ofSEC24D causing Cole ‐Carpenter syndrome type 2.

Source: American Journal of Medical Genetics Part A - November 21, 2018 Category: Genetics & Stem Cells Authors: Shinji Takeyari, Takuo Kubota, Kei Miyata, Kenichi Yamamoto, Hirofumi Nakayama, Keiko Yamamoto, Yasuhisa Ohata, Taichi Kitaoka, Kumiko Yanagi, Tadashi Kaname, Keiichi Ozono Tags: CLINICAL REPORT Source Type: research