J Korean Med Sci.  2010 Dec;25(12):1821-1823. 10.3346/jkms.2010.25.12.1821.

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report

• Park KH
• Lee ST
• Ki CS
• Byun SY

• KMID: 1792912
• DOI: http://doi.org/10.3346/jkms.2010.25.12.1821

Abstract

Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly characterized by distinctive facial features, upper limb malformations, growth and cognitive retardation. The diagnosis of the syndrome is based on the distinctive clinical features. The etiology is still not clear. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A (also called SMC1L1) and SMC3 have been suggested as probable cause of this syndrome. We experienced a case of newborn with CdLS showing bushy eyebrows and synophrys, long curly eyelashes, long philtrum, downturned angles of the mouth and thin upper lips, cleft palate, micrognathia, excessive body hair, micromelia of both hands, flexion contracture of elbows and hypertonicity. We detected a NIPBL gene mutation in a present neonate with CdLS, the first report in Korea.

Keyword

De Lange Syndrome; Genes; NIPBL

MeSH Terms

Codon, Nonsense
Codon, Terminator
De Lange Syndrome/diagnosis/*genetics/ultrasonography
Heterozygote
Humans
Infant, Newborn
Male
Proteins/*genetics
Sequence Analysis, DNA
Tomography, X-Ray Computed

Figure

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  Fig. 1 General appearance shows distinctive facial features, excessive body hair, micromelia of both hands, flexion contracture of elbows, and hypertonicity.

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  Fig. 2 Facial examination shows bushy eyebrows and synophrys, long curly eyelashes, long philtrum, downturned angles of the mouth and thin upper lips, cleft palate, micrognathia.

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  Fig. 3 Sequence analysis of the NIPBL gene identified a heterozygous nonsense mutation generating a premature stop codon (c.7178C>G; p.Ser2393X).

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