![]() PMID:21495173Ĭerebro-oculo- facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype-phenotype correlation, being more common in individuals with a BRAF mutation. We provide new details of the breadth of phenotype and discuss the frequency of particular features in each genotypic group. While some clinical data on 136 are in the literature, fifty are not previously published. The age range is 6 months to 32 years, the oldest individual being a female from the original report. BRAF mutations are documented in 140 individuals (~75%), while 46 (~25%) have a mutation in MEK 1 or MEK 2. This clinical study of 186 children and young adults with mutation-proven cardio- facio-cutaneous syndrome is the largest reported to date. Little, however, has been published on genotype-phenotype correlations. Following the discovery of the causative genes, more information has emerged on the breadth of clinical features. First described in 1986, more than 100 affected individuals are reported. Additional features include failure to thrive with severe feeding problems, moderate to severe intellectual disability and short stature with relative macrocephaly. ![]() Cardinal features of cardio- facio-cutaneous include congenital heart defects, a characteristic facial appearance, and ectodermal abnormalities. In approximately 10–30% of individuals with a clinical diagnosis of cardio- facio-cutaneous, a mutation in one of these causative genes is not found. ![]() Mutations in KRAS and SHOC2 lead to a phenotype with overlapping features. Cardio- facio-cutaneous syndrome: Does genotype predict phenotype?Īllanson, Judith E Annerén, Göran Aoki, Yoki Armour, Christine M Bondeson, Marie-Louise Cave, Helene Gripp, Karen W Kerr, Bronwyn Nystrom, Anna-Maja Sol-Church, Katia Verloes, Alain Zenker, MartinĬardio- facio-cutaneous syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. ![]()
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