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

被引：11

作者：

Takeyari, Shinji ^{[1
]}

Kubota, Takuo ^{[1
]}

Miyata, Kei ^{[1
]}

Yamamoto, Kenichi ^{[1
,2
]}

Nakayama, Hirofumi ^{[1
,3
]}

Yamamoto, Keiko ^{[1
]}

Ohata, Yasuhisa ^{[1
,4
]}

Kitaoka, Taichi ^{[1
]}

Yanagi, Kumiko ^{[5
]}

Kaname, Tadashi ^{[5
]}

Ozono, Keiichi ^{[1
]}

机构：

[1] Osaka Univ, Grad Sch Med, Dept Pediat, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan

[2] Osaka Univ, Grad Sch Med, Dept Stat Genet, Osaka, Japan

[3] Osaka Unit Ctr, Japan Environm & Childrens Study, Osaka, Japan

[4] Osaka Univ, Grad Sch Dent, Dept Oral & Maxillofacial Surg 1, Osaka, Japan

[5] Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2018年 / 176卷 / 12期

关键词：

Cole-carpenter syndrome; osteogenesis imperfecta; SEC24D; OSTEOGENESIS-IMPERFECTA; BASILAR INVAGINATION; MUTATIONS; COPII; REDUCTION;

D O I：

10.1002/ajmg.a.40643

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：2882 / 2886

页数：5

共 43 条

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