Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

Alves, Rogério Marins; da Silva Costa, Sueli Matilde; do Amôr Divino Miranda, Paulo Mauricio; Ramos, Priscila Zonzini; Marconi, Thiago Gibbin; Santos Oliveira, Gisele; Castilho, Arthur Menino; Sartorato, Edi Lúcia

doi:10.1186/s12881-016-0303-5

Table 2 Summary of alterations identified only in patients with sensorineural HL

From: Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

Patient	Alteration	Gene	Haplogroup	Gender	Hetero/Homoplasmy	Status^a
Mit05	A827G	MT-RNR1	L3 – R	M	Homo	Conflicting
Mit12	A827G	MT-RNR1	L3 – R	M	Homo	Conflicting
Mit13	A827G	MT-RNR1	L3 - R	F	Homo	Conflicting
Mit15	G8363A - G15927A	MT-TK MT-TT	L3 - X - J	M	Homo	Confirmed Possible helper
Mit17	A1555G	MT-RNR1	L3 - D	M	Homo	Confirmed
Mit18	A1555G	MT-RNR1	L3 - D	M	Homo	Confirmed
Mit19	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit21	A827G	MT-RNR1	L3 - R	F	Homo	Conflicting
Mit24	G709A	MT-RNR1	L3 - R - T	F	Homo	Reported
Mit25	T5655C	MT-TA	L1/L2	M	Hetero	Reported
Mit27	A827G	MT-RNR1	L3	M	Homo	Conflicting
Mit29	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit32	A827G	MT-RNR1	L3 - R	F	Homo	Conflicting
Mit33	A1555G	MT-RNR1	L1/L2	M	Homo	Confirmed
Mit34	G709A	MT-RNR1	L3 - R - T	F	Homo	Reported
Mit36	G709A	MT-RNR1	L3 - R - T	F	Hetero	Reported
Mit43	G709A	MT-RNR1	L1/L2	M	Hetero	Reported
Mit47	A1555G	MT-RNR1	L3 - R - H	F	Homo	Confirmed
Mit48	A1555G	MT-RNR1	L1/L2	M	Homo	Confirmed
Mit49	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit54	G709A	MT-RNR1	L3 - R - T	M	Hetero	Reported
Mit57	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit59	A827G	MT-RNR1	L3 - R	F	Homo	Conflicting
Mit63	G5821A	MT-TC	L1/L2	M	Homo	Reported
Mit74	A827G	MT-RNR1	L3 - R - T	F	Homo	Conflicting
Mit77	G12236A	MT-TS2	L1/L2	F	Homo	Reported
Mit85	G709A	MT-RNR1	L3 - R	M	Homo	Reported
Mit86	A827G	MT-RNR1	L3	M	Homo	Conflicting
Mit91	G709A	MT-RNR1	L3	F	Homo	Reported
Mit94	A827G	MT-RNR1	L3 - R	F	Homo	Conflicting
Mit96	G709A	MT-RNR1	L3 - R	M	Homo	Reported
Mit97	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit98	T5655C	MT-TA	L1/L2	F	Homo	Reported
Mit99	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit100	T5655C	MT-TA	L3	F	Hetero	Reported
Mit102	G709A	MT-RNR1	L3 - R - T	F	Homo	Reported
Mit108	T5628C-G988A	MT-TA MT-RNR1	L3	F	Homo	Reported Reported
Mit117	G709A	MT-RNR1	L3	M	Homo	Reported
Mit118	T1291C	MT-RNR1	L1/L2	F	Homo	Unclear
Mit129	A827G	MT-RNR1	R - T	M	Homo	Conflicting
Mit130	G709A	MT-RNR1	L3 - R	F	Hetero	Reported
Mit133	T10454C	MT-TR	L1/L2	M	Homo	Reported
Mit135	T5655C	MT-TA	L1/L2	M	Homo	Reported
Mit137	A827G	MT-RNR1	L3 - R	F	Homo	Conflicting
Mit140	G709A	MT-RNR1	L3	M	Homo	Reported
Mit144	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit145	A827G	MT-RNR1	L3 - R	M	Homo	Conflicting
Mit149	G709A	MT-RNR1	L3	M	Homo	Reported
Mit151	A827G	MT-RNR1	L3 – T	M	Homo	Reported

^aBased on the MITOMAP database; ‘Reported’ status indicates that one or more reports have considered the mutation as possibly pathologic. ‘Confirmed’ (bold) indicates that two or more independent studies had reported about the pathogenicity of specific mutation

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ISSN: 1471-2350

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