Genes for Cornelia de Lange Syndrome

Three genes involved in encoding cohesin proteins–NIPBL, SMC3, and SMC1A–have been associated with Cornelia de Lange Syndrome* (CdLS) that occurs in approximately 1 in 10,000 live births. Cohesin proteins play a role in pairing sister chromatids during cell division (mitosis). Mutations in these three genes may be involved in various aspects of human development, including that of the brain. While mutations in NIPBL account for half of known CdLS cases, mutations in SMC3 and SMC1A are involved in only 5%.

According to the CdLS USA Foundation:

Common characteristics [of CdLS] include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.

The Foundation also has an excellent list of reasons why it’s important to have found the CdLS gene:

• To confirm the diagnosis
• To understand the diagnosis of CdLS, improve existing therapies, and design new medical therapies
• To understand the role the gene plays in development
• To offer reassurance, through genetic testing, that other family members are not affected
• To provide accurate information and counseling resources for future pregnancies
• To generate broad interest about the syndrome in the medical/scientific research community

Genes involved in CdLS most likely play a role in other diseases as well, including mental retardation and autism.

*Named after the professor who documented the first cases.

Photo: Edventures Online

Yahoo! Finance, February 5, 2007

Tags: cornelia de lange, cdls, cornelia de lange syndrome, mental retardation, brain development, genetics, genes, dna, diseases, illness, health, nipbl, smc1a, smc3