A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation

Ho Young Kim; Min Seon Choi; Moon Woo Seong; Sung Sup Park; Sang Kee Park

doi:10.14734/kjp.2014.25.2.100

Journal List > Korean J Perinatol > v.25(2) > 1013707

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Kim, Choi, Seong, Park, and Park: A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation

Original Article

Korean J Perinatol 2014;25(2):100-104.

Published online: 21 June 2014

DOI: https://doi.org/10.14734/kjp.2014.25.2.100

A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation

Ho Young Kim, M.D.¹, Min Seon Choi, M.D.¹, Moon Woo Seong, M.D.², Sung Sup Park, M.D.², Sang Kee Park, M.D.¹

¹Department of Pediatrics, College of Medicine, Chosun University Hospital, Gwangju, Korea Department of Laboratory Medicine, Seoul, Korea

²Department of Pediatrics, College of Medicine, Seoul National University Hospital, Seoul, Korea

Received 5 March 20144 April 2014 Accepted 7 May 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history andCOL2A1 gene mutation.

Keywords: Stickler syndrome, COL2A1 Protein, Mutation, Newborn

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Fig. 1.

Pedigree tree of the patient.

Fig. 2.

(A) General appearance showing flat nose and micrognathia. (B) Widening between first and second toes, fourth and little toes.

Fig. 3.

(A) Whole spine AP x-ray shows saw-toothed wheel appearance on thoraco-lumbal vertebral body. (B) Knee x-ray shows irregularity of the epiphysis and metaphysis on femur and tibia. These findings suggest spondyloepiphysial dysplasia.

Fig. 4.

Sequencing of COL2A1 gene showed a novel unclassified variant, c.970-6T>C, (IVS15).

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