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The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia. A total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate variants were selected using a bioinformatics analysis. All candidate variants were confirmed by Sanger sequencing, correlation with the phenotype, and a cosegregation study in the family. TES detected “confirmed” or “highly likely” pathogenic sequence variants in 74% (71 of 96) of cases in the assured clinical diagnosis category and 20.3% (13 of 64 cases) of cases in the uncertain clinical diagnosis category. TES successfully detected pathogenic variants in all 25 cases of previously known genotypes. The data also suggested a copy-number variation that led to a molecular diagnosis. This study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons. Genet Med 18 6, 563–569.

The signal pathway of the C-type natriuretic (CNP) and its receptor, natriuretic peptide receptor 2 (NPR2) is involved in the longitudinal growth of long bones. Loss of function mutations at NPR2 cause acromesomelic dysplasia, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain-of-function mutation at NPR2 have been reported to be responsible for an overgrowth syndrome in three cases and one family, respectively. We identified a four-generation family with an overgrowth syndrome characterized by tall stature, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis, similar to those previously reported in association with CNP/NPR2 overactivity. The serum level of amino-terminal proCNP was normal in the proband. A novel missense mutation of NPR2, c.1462G>C (p.Ala488Pro) was found to co-segregate with the phenotype in this family. In vitro transfection assay of the mutant NPR2 revealed overactivity of the mutant receptor at baseline as well as with the ligand. This overgrowth syndrome caused by a gain-of-function mutation at NPR2 should be differentiated from Marfan or related syndromes, and may be categorized along with the overgrowth syndrome caused by overproduction of CNP due to its phenotypical similarity as overgrowth CNP/NPR2 signalopathy. © 2013 Wiley Periodicals, Inc.

The purpose of this study was to examine the process to manufacture costume design of main female characters of TV historical dramaLee Sanand suggest the costume, which is developed with contemporary taste. As study methods, the literature study using books and theses concerning costume, fine art, culture and history were used for theoretical background and the empirical study method manufacturing actual costume on the basis of literature and relic were used for dress manufacture. The study results were as follows. The costume was decided by researching historical investigation material on the basis of synopsis, grasping director's basic intention, setting design direction, preparing design map of each character, selecting style, detail, fabric and color, manufacturing sample and performing camera test. The design concept ofLee Sanwas Modern & Chic & Clean, short & fitted chogori, chima with wide & abundant cocoon silhouette, clean & bright colors and 100% silk fabric. For the design discrimi-nation of royal semi-formal costume, color was used to symbolize character and pattern was used to symbolize social status. In addition, detail change was adopted depending on the body shape of actor and there was almost no design discrimination in silhouette and fabric. Petticoat of the west, modernization of transitional pattern and change of detail were adopted as design elements to add contemporary taste.Key words: historical drama(사극), drama costume(드라마 의상), royal costume design(궁중복식 디자인), hanbok design(한복 디자인).

Tibial hemimelia-polydactyly-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested. The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation. This case further supports a causal relationship between this mutation and the phenotype.