Deafness and myopia syndrome ... (Deafness and myopia syndrome) - Gen SLITRK6.
Deafness syndrome and myopia is a disorder that causes problems with hearing and vision. People affected by the syndrome have moderate to profound hearing loss in both ears that can worsen over time. Hearing loss can be described as sensorineural, which means that is related to changes in the inner ear, or may be caused by auditory neuropathy. In general, hearing loss is congenital or begins in childhood, before the child learns to speak. Affected individuals also have very high myopia. Myopia is usually diagnosed in early childhood.
Deafness syndrome and myopia is due to mutations in the gene SLITRK6, located on the long arm of chromosome 13 (13q31.1). This gene encodes a protein that is found mostly in the inner ear and the eye. This protein stimulates the growth and survival of neurons in the inner ear that transmit audio signals. It also regulates eye growth after birth. In particular, SLITRK6 protein influences the axial length, which determines whether a person will be nearsighted or farsighted or have a normal vision. The SLITRK6 protein across the cell membrane where it is anchored in position to perform its function.
They have identified at least 3 SLITRK6 gene mutations in people with deafness and myopia syndrome. These mutations result in an abnormally short SLITRK6 protein that is not properly anchored to the cell membrane. As a result, the protein is unable to perform its function properly. The deterioration of the function of proteins SLITRK6 causes abnormal neural development in the inner ear and growth of the eyeball inadequately controlled, resulting in loss of hearing and vision occurs syndrome deafness and myopia.
This disease is inherited in an autosomal recessive pattern, which means that both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with myopia and deafness syndrome by complete PCR amplification of the exons of the gene SLITRK6, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).