An Outbreak of Mumps in a High School, Seoul, 2013

PURPOSE: This study investigated an outbreak of mumps affecting students in a high school (S high school) in Seoul, with an evaluation of the diagnostic utility of the mumps polymerase chain reaction (PCR) assay. METHODS: S high school students that presented to health care providers with mumps symptoms between April 2013 and July 2013 were surveyed for the monthly distribution of symptom onset and their grade level. Mumps PCR assays were performed using buccal swabs from some of these students. RESULTS: During the survey period, 77 students presented with suspected cases of mumps. The monthly distribution of symptom onset was as follows: one in April, 17 in May, 54 in June, and five in July. With regard to grade level, 26 students were in their first year, 28 were in their second year, and 23 were in their third year. Of the 18 students tested with PCR assays, five had positive results. Samples were collected within 3 days of symptom onset in 15 of the 18 students, and positive PCR results were obtained in five of these 15 students. The PCR results of the remaining three students from whom samples were collected more than 3 days after the onset of symptoms were negative (P=0.24). CONCLUSIONS: We evaluated the epidemiological aspects of an outbreak of mumps in a high school. Mumps PCR might be epidemiologically useful if performed within 3 days of the onset of symptoms in suspected cases.

A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.