MTTS1 (OMIM# *590080)
The A7445G variant in the MTTS1 gene, which encodes the transfer RNA for serine (OMIM# *590080), is associated with maternally inherited, nonsyndromic hearing loss (Reid et al., 1994). The deafness is progressive, post lingual and involves the high frequencies.
Indications for screening
This test is appropriate for a patient suspected of having maternally inherited high frequency hearing loss.
Samples are amplified with an oligonucleotide primer pair that flanks the A7445G variant within the MTTS1 gene, followed by sequencing.
Sensitivity is greater than 99%.
Turnaround time is approximately 3 months (Average TAT - 24 days).
8 - 10 cc. whole blood in lavender (EDTA) top tubes OR 10 μg DNA, minimum concentration: 50 ng/μl (A260/A280 1.8-2) resuspended in 0.1mM EDTA (10mM Tris HC1, 0.1mM EDTA, pH 8, Teknova Cat#T0220).
Cost & CPT Codes
Other Web Sites:
- Reid, F. M. et al.: A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3: 243-247, 1994. PubMed ID: 8019558
- Casano, R. A. et al.: Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am J Med Genet. 79(5):388-91, 1998. PubMed ID: 9779807
The Clinical Diagnostics Service of the Molecular Otolaryngology and Renal Research Laboratories is a Joint Commission-approved CLIA-accredited diagnostic laboratory.