title: Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
abstract: BACKGROUND
  Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features of a family with an atypical type II collagenopathy.
  
  
  METHODS
  A family with three affected males in three generations was described. Prominent clinical findings included short stature with platyspondyly, flat midface and Pierre Robin sequence, severe dysplasia of the proximal femora, and severe retinopathy that could lead to blindness. By whole exome sequencing, a novel heterozygous deletion, c.4161_4165del, in COL2A1 was identified. The phenotype is atypical for those described for mutations in the C-propeptide region of COL2A1.
  
  
  CONCLUSIONS
  We have described an atypical type II collagenopathy caused by a novel out-of-frame deletion in the C-propeptide region of COL2A1. Of all the reported truncating mutations in the C-propeptide region that result in short-stature type II collagenopathies, this mutation is the farthest from the C-terminal of COL2A1.
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, 10330, Bangkok, Thailand.|Department of Orthopedics, Faculty of Medicine, Chiang Mai University, 50200, Chiang Mai, Thailand.|Interdepartment Program of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, 10330, Bangkok, Thailand.
authors.forename: Apiruk
authors.initials: A
authors.lastname: Sangsin
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, 10330, Bangkok, Thailand.
authors.forename: Chalurmpon
authors.initials: C
authors.lastname: Srichomthong
authors.affiliation: Department of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, 10330, Bangkok, Thailand.|Program in Bioinformatics and Computational Biology, Graduate School, Chulalongkorn University, 10330, Bangkok, Thailand.
authors.forename: Monnat
authors.initials: M
authors.lastname: Pongpanich
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand. kanya.Su@chula.ac.th.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, 10330, Bangkok, Thailand. kanya.Su@chula.ac.th.|Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Sor Kor Building 11th floor, 10330, Bangkok, Thailand. kanya.Su@chula.ac.th.
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.|Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, 10330, Bangkok, Thailand.
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D044466:Asian People / Q000235:genetics; D024043:Collagen Type II / Q000737:chemistry / Q000235:genetics*; D059472:Exome; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*; D017384:Sequence Deletion; D013785:Thailand
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II
keywords: C-propeptide region; COL2A1; Exome sequencing; Type II collagenopathies