Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy

Wang, Hongyang; Wang, Li; Yang, Ju; Yin, Linwei; Lan, Lan; Li, Jin; Zhang, Qiujing; Wang, Dayong; Guan, Jing; Wang, Qiuju

doi:10.1186/s12881-018-0741-3

BMC Medical Genetics

Table 1 Overview of known MTS cases on phenotype and related genotype

From: Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy

Year	Source	Affected members, No. of Generations	Phenotypes				Genotypes
Year	Source	Affected members, No. of Generations	Onset of Deafness	Onset of Dystonia	Onset of Impaired vision	Psychiatric disorders	TIMM8A Variations		Type
1976	America [20]	3,2	2–6	7	none		NR	NR	NR
1960,1995,1996	Norway [1]	16,5	2–7	7–50	mid-thirties	Peripheral neuropathy, mental deterioration, et al	c.151delT	p.M39Rfs26	Frameshift
1996	America [3]	5,2	NR	NR	none	Mental impairment	c.183del10	p.K50Qfs12	Frameshift
1998	Australia [21]	3,2	2	6–12	12–16	Possible	c.52C > T	p.Q18X	NR
2000	Dutch [22]	1,1	2.5	10	none	Hyper-reflexia, dyspraxia	c.233C > G	p.C66W	missense
2001	Demark [23]	3,5	Early infancy-2	21	14–18	Mildly demented	c.105G > T	p.E24X	nonsense
2001	America [16]	8,4	congenital	Teens-adult	early fifties	Dementia	c.108delG	p.V25X	Frameshift
2001	Japan [24]	5,4	0.5–9	16–30	none	Mild mental impairment	c.238C > T	p.R80X	Nonsense
2003	Germany [25]	1,1	3	28	37	None	c.38G > C	p.M1I	Missense
2004	Italy [26]	1,1	2	19	15	Cognitive decline	complete deletion
2005	Spain [27]	2,2	4–11	11–20	24	Cognitive decline	IVS1-23A > C		Splice
2006	Spain [28]	2,3	3–7	8	none	Attention deficit and hyperactivity disorder	c.127delT	p.C43Vfs22	Frameshift
2007	UK [29]	1,1	< 1	25	30	None	IVS1+ 1G > A		Splice
2007	Spain [30]	1,1	3	30	15	Distractibility, irritability, and childish manners	c.112C > T	p.Q38X	Nonsense
2007	Czech Republic [17]	2,1	2,5	33	NR	Aggressive behaviour	complete deletion
	Czech Republic	1,1	4	5	NR	NR	complete deletion
	Estonia	2,1	2.5,4	NR	NR	Progressing psychomotor retardation	complete deletion
	African-America	1,1	3	3	NR	NR	complete deletion
2008	Spain [31]	1,1	4	23	14	Mild mental retardation	IVS1+ 1G > T		Splice
2008	America [19]	1,1	2	NR	NR	NR	exon 1 deletion
2011	Japan [32]	1,1	1	NR	NR	NR	complete deletion
	Japan	1,1	1.5	NR	NR	NR	complete deletion
2013	France [18]	1,1	2.5	8	None	Congenital mental retardation	IVS1+ 1G > A		Splice
2016	Poland [33]	1,1	3	12	None	NR	NR		NR
2016	French-Canadian [34]	4,3	2	NR	NR	progressive psychomotor deterioration	complete deletion
2018	China	1,2	3	Not yet	Not yet	Not yet	c.232_233insCAAT	p.L78Sfs21	Frameshift
2018	China	1,2	13	Not yet	Not yet	Not yet	c.133_135delGAG	p.Glu45del	Indel
2018	China	1,2	13	Not yet	Not yet	Not yet	arr[hg19] Xq22.1(100,593,213-100,609,547) × 0	/	CNV

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ISSN: 1471-2350

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