Premium
Japanese patient with Cole‐carpenter syndrome with compound heterozygous variants of SEC24D
Author(s) -
Takeyari Shinji,
Kubota Takuo,
Miyata Kei,
Yamamoto Kenichi,
Nakayama Hirofumi,
Yamamoto Keiko,
Ohata Yasuhisa,
Kitaoka Taichi,
Yanagi Kumiko,
Kaname Tadashi,
Ozono Keiichi
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40643
Subject(s) - frontal bossing , craniofacial , osteogenesis imperfecta , compound heterozygosity , short stature , medicine , exome sequencing , hypoplasia , anatomy , pediatrics , genetics , biology , allele , mutation , psychiatry , gene
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.