HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Park, H.-D. Articles by Kim, J.-K. Search for Related Content PubMed PubMed Citation Articles by Park, H.-D. Articles by Kim, J.-K.

Clinical and Genetic Analysis of Korean Patients with Cornelia de Lange Syndrome: Two Novel NIPBL Mutations

Address correspondence to Chang-Seok Ki, M.D., Ph.D., Department of Laboratory Medicine and Genetics, Samsung Medical Center, 50 Ilwon-dong, Gangnam-gu, Seoul, 135-710, Korea; tel: 82 2 3410 2709; fax 82 2 3410 2719; e-mail changski{at}skku.edu, or to Jin-Kyung Kim, M.D., Ph.D., Department of Pediatrics, Catholic University of Daegu School of Medicine, 3056-6 Daemyeong 4-dong, Nam-gu, Daegu, 705-178, Korea; tel 82 53 650 4240; fax 82 53 622 4240; e-mail kimjk{at}cu.ac.kr.

Cornelia de Lange syndrome (CdLS; OMIM #122470) is a multiple congenital anomaly with characteristic facial features, growth delay, mental retardation, limb defects, behavioral problems, ocular and hearing impairments, and gastrointestinal or cardiac abnormalities. Although the NIPBL gene has been identified as a causative gene for CdLS, there has hitherto been no genetically confirmed case of CdLS in Korea. Herein, we report a clinical and genetic analysis of three Korean patients with clinical features consistent with CdLS. A male neonate had distinctive facial features, malformations of the upper extremities, genital abnormalities, and bilateral hearing loss, while a 6-yr-old boy and a 10-yr-old girl had distinctive facial features, short stature, and mental retardation. There were no chromosomal abnormalities in the three children. Sequence analysis of the NIPBL gene revealed three novel NIPBL variations including c.6108+2T>C, c.4028A>C (p.His1343Pro), and c.218C>T (p.Ser73Leu) in each patient, respectively. The first two variations appear to be de novo mutations causing CdLS in the patients because they are absent in the patients’ parents. The p.Ser73Leu variation, however, seems to be a polymorphism since it is found both in the patient and in her asymptomatic mother. To the best of our knowledge, this is the first report of genetically confirmed cases of CdLS in Korea and extends the mutation spectrum of the NIPBL gene.

Keywords: Cornelia de Lange syndrome, NIPBL gene mutations