Costello Syndrome

Reports summarize mental retardation genetics study results from Tohoku University, Department of Medical Genetics

Costello Syndrome Library Library Home This article was published in Mental Health Weekly Digest, which you can subscribe to online.

"Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome. The purpose of this study was to perform comprehensive mutation analysis in 56 patients with CFC syndrome and to investigate genotype-phenotype correlation. We analyzed KRAS, BRAF, and MAP2K1/2 (MEK1/2) in 13 new CFC patients and identified five BRAF and one MAP2K1 mutations in nine patients. We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. No mutations were identified in MAPK3/1 (ERK1/2) in 21 patients without any mutations. In total, 35 of 56 (62.5%) patients with CFC syndrome had mutations (3 in KRAS, 24 in BRAF, and 8 in MAP2K1/2). No significant differences in clinical manifestations were found among 3 KRAS-positive patients, 16 BRAF-positive patients, and 6 MAP2K1/2-positive patients," wrote Y. Narumi and colleagues, Tohoku University, Department of Medical Genetics.

The researchers concluded: "Wrinkled palms and soles, hyperpigmentation and joint hyperextension, which have been commonly reported in Costello syndrome but not in CFC syndrome, were observed in 30-40% of the mutation-positive CFC patients, suggesting a significant clinical overlap between these two syndromes."

Narumi and colleagues published their study in American Journal of Medical Genetics Part A (Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. American Journal of Medical Genetics Part A, 2007;143(8):799-807).

Additional information can be obtained by contacting Y. Narumi, Tohoku University School of Medicine, Dept. of Medical Genetics, Sendai, Japan.

The publisher of the American Journal of Medical Genetics Part A can be contacted at: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA.

Keywords: Japan, Sendai, Mental Retardation Genetics, Costello Syndrome, Developmental Disabilities, Genetics, Mental Retardation.

This article was prepared by Mental Health Weekly Digest editors from staff and other reports. Copyright 2007, Mental Health Weekly Digest via NewsRx.com.