Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Geis, Tobias; Rödl, Tanja; Topaloğlu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Kölbel, Heike

doi:10.1186/s13023-019-1119-0

Orphanet Journal of Rare Diseases

Table 2 Summary of POMT1 mutations identified in patients of this study

From: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Patient	Diagnosis	Exon/Intron	Nucleotide change	Predicted amino acid change	Mutation type	Reference
1	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
1	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
2	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
2	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
3	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
3	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
4	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
4	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
5	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
5	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
6	LGMD	Exon 15	c.1456dupT	Trp486Leufs*74	Frame shift	this study
6	LGMD	Exon 3	c.160 T > A	Tyr54Asn	Missense	this study
7	LGMD	Exon 18,19	partial deletion Exon 18–19	A589Vfs*38	Frame shift	[14]
7	LGMD	Exon 6	c.512 T > G	Leu171Arg	Missense	[14]
8 a, b	LGMD	Exon7	c.598G > C	Ala200Pro	Missense	[8]
8 a, b	LGMD	Exon7	c.598G > C	Ala200Pro	Missense	[8]
9	LGMD	Exon 19	c.1987C > T	Leu663Phe	Missense	this study
9	LGMD	Exon 20	c.2167dupG	Asp723Glyfs*8	Frame shift	[4, 7, 10]
10	LGMD	Exon 19	c.1958C > T	Pro653Leu	Missense	[10]
10	LGMD	Exon 15	c.1456dupT	Trp486Leufs*74	Frame shift	this study
11	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
11	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
12	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
12	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
13a, b	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
13a, b	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
14	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
14	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
15	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
15	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
16	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
16	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
17	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
17	LGMD	Exon 7	c.598G > C	Ala200Pro	Missense	[8]
18	WWS	Intron 4	c.280 + 1G > T	p.del77_93 (delExon4)	Donor splice site	[15, 31]
18	WWS	Intron 4	c.280 + 1G > T	p.del77_93 (delExon4)	Donor splice site	[15, 31]
19	WWS	Exon 15	c.1540C > T	Arg514*	Nonsense	[11]
19	WWS	Exon 15	c.1540C > T	Arg514*	Nonsense	[11]
20	WWS	Exon 18	c.1558C > T	Arg620*	Nonsense	[33]
20	WWS	Exon 18	c.1558C > T	Arg620*	Nonsense	[33]
21 a, b, c	WWS	Exon 20	c.2167dupG	p.Asp723Glyfs*8	Frame shift	[4, 7, 10]
21 a, b, c	WWS	Exon 12	c.1153C > T	Gln385*	Nonsense	[4]
22 a, b, c	WWS	Exon 9	c.842_844delTCT	del281Phe	In frame	this study
22 a, b, c	WWS	Exon 20	c.2167dupG	p.Asp723Glyfs*8	Frame shift	[4, 7, 10]
23 a, b, c	WWS	Exon 11	c.1153C > T	Gln385*	Nonsense	[4]
23 a, b, c	WWS	Exon 20	c.2167dupG	p.Asp723Glyfs*8	Frame shift	[4, 7, 10]
24	WWS	Exon 20	c.2167dupG	p.Asp723Glyfs*8	Frame shift	[4, 7, 10]
24	WWS	Exon 20	c.2167dupG	p.Asp723Glyfs*8	Frame shift	[4, 7, 10]
25	WWS	Exon 9	c.907C > T	p.Gln303*	Nonsense	[4]
25	WWS	Exon 9	c.907C > T	p.Gln303*	Nonsense	[4]
26	MEB-like	Exon 15	c.1528G > A	p.Val510Met	Missense	this study
26	MEB-like	Exon 17	c.1688A > C	p.His563Pro	Missense	this study
27	WWS	Exon 5	c.299delC	p.Pro100Leufs*23	Frame shift	this study
27	WWS	Intron 8	c.766-2A > G	p.?	Acceptor splice site	this study

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ISSN: 1750-1172

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