Annals of Clinical & Laboratory Science 41:93-96 (2011)
© 2011 Association of Clinical Scientists
A Novel Mutation in the MECP2 Gene in a Korean Patient with Rett Syndrome
Eun Young Lee1,2,
Hee-Jung Chung3,
Chang-Seok Ki4,
Jong-Ha Yoo1,2 and
Jong Rak Choi1
1 Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul; 2 Departments of Laboratory Medicine and 3 Pediatrics, National Health Insurance Corporation Ilsan Hospital, Goyang; 4 Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Address correspondence to Jong-Ha Yoo, M.D., Ph.D., Department of Laboratory Medicine, National Health Insurance Corporation Ilsan Hospital, 1232 Baekseok-dong, Ilsandong-gu, Goyang, Korea; e-mail jhyoo92{at}empal.com; or to Jong Rak Choi, M.D., Ph.D., Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemungu, Seoul 120-752, Korea; e-mail: cjr0606{at}yuhs.ac.
Rett syndrome (RTT) is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT. Using DNA samples from a RTT patient and her parents, we sequenced three exons and flanking intron regions of the MECP2 gene using the polymerase chain reaction. Sequencing of the MECP2 gene in the proband revealed a novel 41-base pair deletion in exon 4 (c.1152_1192del41). This mutation resulted in premature termination of the 487 amino acid protein at the 390th codon, predicting a partial loss of the C-terminal domain. We did not observe this mutation in either parent of the RTT patient, but further studies are needed to evaluate the possibility of germline mosaicism.
Copyright © 2011 by the Association of Clinical Scientists.
