Related Experiment Video
Updated: Apr 15, 2026
13:26
Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
12.8K
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations
Jacqueline D Peacock1, Karl J Dykema1, Helga V Toriello2
1Van Andel Research Institute, Grand Rapids, Michigan.
American Journal of Medical Genetics. Part A
|March 27, 2015
Summary
Oculoectodermal syndrome (OES) is a rare mosaic RASopathy linked to KRAS gene alterations. This study identifies specific KRAS mutations, broadening understanding of OES and RASopathies.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- Oculoectodermal syndrome (OES) is a rare genetic disorder.
- OES is characterized by congenital scalp lesions, ocular dermoids, and benign tumors.
Observation:
- Whole-genome sequencing identified somatic KRAS mutations in OES patients.
- Specific KRAS alterations (p.Gly13Asp, p.Leu19Phe) were found in affected tissues.
- Low allelic frequencies suggest mosaicism in OES.
Findings:
- OES is a mosaic RAS-related disorder (RASopathy) caused by KRAS alterations.
- The findings expand the known phenotypic spectrum of KRAS mutations.
- OES shares features with other mosaic and germline RASopathies.
Implications:
- KRAS sequencing can improve OES diagnosis.
- Further research on malignancy risk and targeted therapies for OES is recommended.
- This discovery advances understanding of RASopathies and KRAS-related disorders.
Related Concept Videos
01:14Changes in Skin Color: Clinical Perspectives
4.2K
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
4.2K
01:11Genetic Lingo
118.8K
Overview
118.8K
01:22Photoreceptors and Visual Pathways
11.2K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
11.2K
01:33Pleiotropy
44.3K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.3K
01:39Epistasis
51.6K
In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
51.6K
01:20The Retinoblastoma Gene
5.0K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
5.0K