Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Zhang, Jing; Guan, Jing; Wang, Hongyang; Yin, Linwei; Wang, Dayong; Zhao, Lidong; Zhou, Huifang; Wang, Qiuju

doi:10.1186/s12881-019-0790-2

BMC Medical Genetics

Table 3 Reported variants of MYO15A related to both a severe hearing loss phenotype and a milder hearing loss phenotype

From: Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

cDNA (NM_016239.3)	Protein chang (NP_057323d.3)	Exon/Intron	Proteindomain	Zygosity	Hearing impairment phenotype		Ethnic Origin	References
cDNA (NM_016239.3)	Protein chang (NP_057323d.3)	Exon/Intron	Proteindomain	Zygosity	Age of onset(year)	Severity	Ethnic Origin	References
c.535G > T	p.Glu179*	2	N-terminal	Het	Congenital	Profound	Korea	ParK,2014
c.535G > T	p.Glu179*	2	N-terminal	Het	Congenital	Moderate	Japan	Miyagawa,2015
c.855dupT	p.Pro286Serfs*15	2	N-terminal	Het	Pre-lingual progressive	Severe /Residual low frequencies hearing	China	this study
c.855dupT	p.Pro286Serfs*15	2	N-terminal	Hom	Congenital	Severe to profound	Iran	Sloan,2015
c.4072G > A	p.Gle1358Ser	9	Motor	Het	Post-lingual	Mild	Japan	Miyagawa,2015
c.4072G > A	p.Gle1358Ser	9	Motor	Hom	Congenital	Profound	Pakistan/India	Friedman,2002
c.5810G > A	p.Arg1937His	24	IQ	NA	Post-lingual	Severe	Iran	Sloan,2015
				Het	Childhood	Severe to profound	Iran	Sloan,2016
				Hom	Congenital	Severe to profound	Iran	Fattahi,2012
c.5978C > T	p.Arg1993Gln	27	Other	Het	Post-lingual (8)	Severe	Japan	Miyagawa,2015
				Het	Post-lingual (10)	Severe	Japan	Miyagawa,2015
				Het	Pre-lingual	Severe	Japan	Miyagawa,2013
c.6371G > A	p.Arg2124Gln	30	MyTH4 1	NA	Congenital	Severe to profound	Iran	Sloan,2016
				Hom	NA	Severe to profound,	Iran	Shearer,2009
				Hom	NA	Residual low frequencies hearing	Iran	Shearer,2009
c.6437G > A	p.Arg2146Gln	30	MyTH4 1	NA	Post-lingual	Severe	Iran	Sloan,2015
c.6437G > A	p.Arg2146Gln	30	MyTH4 1	Het	Congenital	Severe to profound	Korea	Woo,2013
c.6614C > T	p.Thr2205Ile	31	Other	Het	Congenital	Severe to profound	Iran	Sloan,2016
c.6614C > T	p.Thr2205Ile	31	Other	Hom	Congenital	Severe to profound	Pakistan	Nal,2007
c.8467G > A	p.Asp2823Asn	48	FERM 1	NA	Congenital	Moderate	Iran	Sloan,2015
				Homo	Congenital	Profound	Israel	Brownstein,2014
				Homo	Congenital	Severe to profound	Iran	Fattahi,2012
c. 9413 T > A	p.Leu3138Gln	57	MyTH4 2	Het	Congenital	Moderate	Japan	Miyagawa,2015
				Homo	Congenital	Profound	Japan	Miyagawa,2015
				Het	Congenital	Profound/residual low frequencies hearing	Japan	Miyagawa,2015
c.9478C > T	p.Leu3160Phe	57	MyTH4 2	Het	Childhood	Profound	Iran	Sloan,2016
				Het	Congenital	Profound	Japan	Miyagawa,2015
				Het	Congenital	Profound/ residual low frequencies hearing	Japan	Miyagawa,2015
				Het	Congenital progressive	Severe to profound	Japan	Miyagawa,2013
				Het	Pre-lingual	Severe	Japan	Miyagawa,2013
				Het	Congenital	Severe to profound	Japan	Miyagawa,2013
c.10249_10251delTCC	p. Ser3417del	64	FERM 2	Het	Congenital	profound	Japan	Miyagawa,2015
c.10249_10251delTCC	p. Ser3417del	64	FERM 2	Het	Post-lingual progressive	Residual low frequencies hearing	Korea	Chang,2018

Abbreviations: NA not available, Hom homozygous variant, Het compound heterozygous mutation variant

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ISSN: 1471-2350

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