A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Herzog, Andreas; Hartung, Ralf; Reuser, Arnold J J; Hermanns, Pia; Runz, Heiko; Karabul, Nesrin; Gökce, Seyfullah; Pohlenz, Joachim; Kampmann, Christoph; Lampe, Christina; Beck, Michael; Mengel, Eugen

doi:10.1186/1750-1172-7-35

Orphanet Journal of Rare Diseases

Table 5 Frequency and predicted effect of identified mutations

From: A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

Mutation	Effect on cDNA or protein	Predicted severity[9, 25, 26]	Frequency
c.-32-13T>G	impaired splicing of exon 2	mild	34/73 alleles in non-classic patients
c.118C>T	p.Arg40X	severe	1/42 alleles at risk
c.307T>G	p.Cys103Gly	severe	2/42 alleles at risk
c.525delT	p.Glu176fsX45	severe	3/42 alleles at risk
*c.701C>A*	*p.Thr234Lys*	*potentially less severe* ^α	*1/42 alleles at risk*
c.877G>A	p.Gly293Arg	severe	2/42 alleles at risk
*c.1005_1006insGG*	*p.Ile336GlyfsX56*	*severe*	*1/42 alleles at risk*
c.1051delG	p.Val351CysfsX41	severe	1/42 alleles at risk
c.1076-22T>G	p.[Asp319_Val358delinsGlySerArgArgTrpProAla; Gly334_Val358delinsGlySerArgArgTrpProAla]	mild	1/73 alleles in non-classic patients
c.1128_1129delinsC	p.Trp376CysfsX16	severe	1/42 alleles at risk
*c.1143delC*	*p.Thr381fsX10*	*severe*	*2/42 alleles at risk*
*c.1291_1299delCTGCACCAG*	*p.Leu431_Gln433del*	*unknown*	*1/77 alleles*
c.1370C>T	p.Pro457Leu	mild	1/73 alleles in non-classic patients
*c.[1426C>A; 1437+1G>A]*	*r.1327_1437del p.Asp443_Lys479del*	*unknown*	*1/77 alleles*
c.1441T>C	p.Trp481Arg	severe	1/42 alleles at risk
c.1548G>A	p.Trp516X	severe	1/42 alleles at risk
c.1561G>A	p.Glu521Lys	severe	2/42 alleles at risk
c.1564C>G	p.Pro522Ala	severe	1/42 alleles at risk
*c.1637-2A>G*	r.[1637_1659del; 1637_1682del; 1637_1738del; 1637_1754del; [1637_1659del, 1755-110_1755-1ins]] p.[V547GfsX80; G546AfsX16; G546_E579del; V547RfsX2; V547_R585delinsGGHHLCLQPPVSLHTLQPAQPLRPDRSHRLPOPLPHPRKLLAPSSALLVTGFPSPPAPHSPHGVPHHPR]	*severe*	*1/42 alleles at risk*
*c.1687_1688insCACC*	*p.Gln563ProfsX73*	*severe*	*1/42 alleles at risk*
*c.1703A>T*	*p.His568Leu*	*unknown*	*1/77 alleles*
c.1799G>A	p.Arg600His	severe	2/42 alleles at risk
*c.1802C>T*	*p.Ser601Leu*	*potentially less severe* ^α	*1/77 alleles*
c.2014C>T	p.Arg672Trp	intermediate	1/77 alleles
*c.2205_2206insT*	*p.Ser736Xfs*	*severe*	*1/42 alleles at risk*
*c.2214G>A*	*p.Trp738X*	*severe*	*2//42 alleles at risk*
c.2237G>A	p.Trp746X	severe	1/42 alleles at risk
*c.2297A>G*	*p.Tyr765Cys*	*unknown*	*1/77 alleles*
*c.2322_2323insGGTGAGTCTGCAAACGGGGAGT*	*p.Leu775GlyfsX70*	*severe*	*1//42 alleles at risk*
c.2481+102_2646+31del	p.Gly828_Asn882del	severe	4//42 alleles at risk
c.2608C>T	p.Arg870X	severe	1//42 alleles at risk
*c.2738C>G*	*p.Pro912Arg*	*unknown*	*1/77 alleles*
c.[2740dup; 2742dup]	p.Gln914fsX30	severe	1//42 alleles at risk

^α unpublished data, that will be included in the upcoming update of the Pompe disease mutation database
novel mutations in bold italics.

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ISSN: 1750-1172

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