ABCC8 p.Ala1555Gly
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 11579420
[PubMed]
Munnich A et al: "Clinical spectrum and diagnosis of mitochondrial disorders."
No.
Sentence
Comment
136
Interestingly, variable degrees of non-syndromic sensorineural hearing loss following amino-glycoside exposure have been described in individuals carrying a homoplasmic mitochondrial tRNASer (T7445C) [Reid et al., 1994] or 12S RNA mutation (A1555G) [Prezant et al., 1993; Matthijs et al., 1996; El-Schahawi et al., 1997; Estivill et al., 1998].
X
ABCC8 p.Ala1555Gly 11579420:136:241
status: NEW141 The major clinical relevance of this is the prevention of antibiotic-induced hearing loss, especially as the A1555G mutation accounts for 15% of all cases of amino-glycoside-induced deafness in the USA [Fischel-Ghodsian, 1998].
X
ABCC8 p.Ala1555Gly 11579420:141:109
status: NEW