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.

Depression and self-concept in girls with perception of pubertal onset

PURPOSE: Early pubertal timing in girls is associated with psychological and behavioral problems. This study aimed to evaluate the psychological features of girls who perceived breast development beginning by analyzing their depression levels and self-concept. METHODS: From March 2007 to December 2012, 93 girls were enrolled and assigned to a pre-8 (younger than 8 years, n=43) or post-8 (8 years and older, n=50) group according to the age at onset of perceived breast development, and their height, body weight, body mass index, bone age (BA), Tanner stage, and luteinizing hormone and follicle-stimulating hormone levels were examined. We investigated their psychological state with the Korean Children's Depression Inventory (CDI) and Piers-Harris Children's Self-Concept Scale (PHCSC) to evaluate depression levels and self-concept, respectively. RESULTS: The pre-8 group had a significantly greater height standard deviation score, (0.5+/-1.01 vs. 0.11+/-0.86, P = 0.048) and more advanced BA (2.07+/-1.02 years vs. 1.40+/-0.98 years, P = 0.004) compared to the post-8 group. There were no statistically significant intergroup differences for the CDI and PHCSC scores; however, the pre-8 group scored higher than the post-8 group in the physical appearance and attributes domain of the PHCSC (9.93+/-2.57 vs. 8.52+/-3.03, P = 0.017). CONCLUSION: The timing of perceived breast development among girls who thought puberty to begin did not affect depression levels and self-concept. There was no correlation between Tanner stage and depression levels and self-concept despite the perception of pubertal onset. The pre-8 group had a more positive view of their physical appearance than the post-8 group.