Genomic coordinate (human 12:25,205,246 KRAS).
Cytoband (human 12p12.1 KRAS).
Intraband %= 79.3%
Here I present: “Cardiofaciocutaneous Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
RASopathies, a group of genetic conditions (including Cardiofaciocutaneous Syndrome) caused by mutations in genes controlling the RAS/MAPK cellular pathway. The image illustrates how different syndromes share overlapping clinical domains, which are detailed below.
Key Syndromes:
Noonan Syndrome: Linked to mutations in PTPN11, SOS1, and KRAS genes.
Cardiofaciocutaneous (CFC) Syndrome: Associated with KRAS, BRAF, and MAP2K1/2 mutations.
Costello Syndrome: Tied specifically to HRAS mutations.
Neurofibromatosis Type-1 (NF1): Caused by mutations in the NF1 gene.
Legius Syndrome: Associated with mutations in the SPRED1 gene.
LEOPARD Syndrome: Tied to PTPN11 and RAF1 mutations (also known as Noonan syndrome with multiple lentigines).
Overlapping Clinical Domains.
The ABOVE diagrams points out four major biological and physiological areas commonly affected by these syndromes:
Facial Features: Distinct dysmorphic facial characteristics frequently seen in Noonan, CFC, and LEOPARD syndromes.
Growth & Development: Postnatal growth failure, short stature, and developmental delays, particularly emphasized in Legius, CFC, and Noonan syndromes.
Nervous System: Neurological issues, hypotonia, learning disabilities, or neurofibromas, impacting NF1, Costello, and Legius syndromes.
Heart Issues: Congenital heart defects (like pulmonary valve stenosis) and hypertrophic cardiomyopathy, strongly linked to Costello, CFC, and Noonan syndromes.
