I have a child that has been tested for everything under the sun and now we have come to Rab27a (Griscelli's syndrome) Does anyone know anything about it and possible a Dermatologist that can perform this test and the other tests (on the hair, etc.) to conferm this desorder?
Griscelli syndrome type 2 (GS2) is a rare genetic condition caused by mutations in the RAB27A gene. Griscelli syndrome type 2 causes pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. GS2 patients also develop an uncontrolled T-lymphocyte and macrophage activation syndrome, known as hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation. Neurological impairment is present in some affected individuals.
Griscelli syndrome type 2 is inherited in an autosomal recessive manner, which means that two mutated copies of the gene are necessary to cause the condition (one from each parent). Parents of an affected child are obligate carriers as they each have one mutated copy of the gene and one normal copy of the gene. Two carriers have a 25% chance with each pregnancy to have an affected child.
We recommend that your child is seen by a medical geneticist for evaluation. A medical geneticist is a doctor who specializes in genetic disorders and can discuss the benefits and limitations of genetic testing for any appropriate genetic conditions such as GS2. Diagnostic genetic testing may be helpful in confirming a clinical diagnosis. You can find a medical geneticist at the American College of Medical Genetics website.
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