Diagnostics Service of
the Molecular Otolaryngology & Renal Research Laboratories is a Joint
Commission-approved CLIA-accredited diagnostic laboratory that
offers mutation screening of several genes.
MTTS1 (OMIM# *590080)
The A7445G mutation 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.
MORL screening methodology
Samples are amplified with an oligonucleotide primer pair that flanks the A7445G mutation within the MTTS1 gene, followed by sequencing.
Sensitivity is greater than 99%.
Turn around time is approximately 3 months
(Average TAT - 24 days).
Indications for screening
This test is appropriate for a patient suspected
of having maternally inherited high frequency hearing loss.
GeneTests GeneReviews – Nonsyndromic
Hearing Loss, Mitochondrial
Reid, F. M. et al.: A
novel mitochondrial point mutation in a maternal pedigree with
sensorineural deafness. Hum.
PubMed ID: 8019558
Casano, R. A. et al.: Hearing
loss due to the mitochondrial A1555G mutation in Italian
J Med Genet. 79(5):388-91, 1998.
PubMed ID: 9779807