Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report

Heye Chen; Wei Yao; Qing He; Xuefang Yu; Bo Bian

doi:10.1186/s12881-020-01049-3

Table 2 Characterization of Fifteen Related Studies on SDHB Mutations in PPGL Patients

From: Identification of a novel SDHB c.563 T > C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report

Reference	Year	Age	Sex	Exon	cDNA	Protein	Type	PGL/PCC	Location	Malignant disease
[13]	2006	32	F	7	c.689G > A	p.R230H	Missense	PGL	Para-aortic abdominal	No
[13]	2006	17	M	7	c.757delT	p.C253Vfs257X	Frameshift	PGL	Middle mediastinum	Yes
[14]	2007	22	F	7	c.640C > T	p.Q214X	Nonsense	PCC^a	Left adrenal gland	No
[15]	2009	15	F	2	c.136C > T	p.R46X	Nonsense	PGL^a	Postcaval abdominal	No
		39	F	3	c.268C > T	p.R90X	Nonsense	PGL	Para-aortic abdominal	Yes
		22	F	7	c.725G > A	p.R242H	Missense	PCC	Right adrenal gland	No
[16]	2010	53	F	3	c.269G > A	p.R90E	Missense	PGL	HN/RCBT	No
		36	F	6	c.597C > G	p.Y199X	Nonsense	PGL	HN/RCBT	No
		43	F	7	c.709C > T	p.P237S	Missense	PGL	HN/RCBT	No
		31	F	2	c.200 + 1G > C	p.?	Splice site	PGL	HN/RGJT	No
		29	F	1	c.20-22delinsC	p.L7PrfsX55	Frameshift	PGL	HN/RGJT	Yes
		31	F	7	c.725G > A	p.R242H	Missense	PGL	HN/RGJT	No
		37	F	7	c.725G > A	p.R242H	Missense	PGL	HN/RGTT	No
		33	M	2	c.79C > A	p.R27X	Nonsense	PGL	HN/LCBT	No
		38	F	6	c.597C > G	p.Y199X	Nonsense	PGL	HN/RCBT	No
		30	F	2	c.137G > A	p.R46Q	Missense	PGL	HN/LCBT	No
[17]	2010	NA	NA	6	c.591del C	p.S198Afs219X	Frameshift	NA	NA	NA
[17]	2010	NA	NA	7	c.688C > T	p.R230C	Missense	NA	NA	NA
[18]	2011	NA	NA	2	c.136C > T	p.R46X	Nonsense	NA	NA	NA
[19]	2013	58	M	6	c.595C > A	p.S195R	Missense	PGL	HN	No
		30	F	1	c.18C > A	p.A6A	Synonymous	PGL	HN	Yes
		17	M	1	c.18C > A	p.A6A	Synonymous	PGL	HN	Yes
		47	F	6	c.595C > A	p.S195R	Missense	PGL	HN	No
		29	F	1	c.18C > A	p.A6A	Synonymous	PGL	HN	Yes
		37	M	1	c.18C > A	p.A6A	Synonymous	PGL	HN	No
[20]	2014	30	M	4	c.380 T > G	p.I127S	Missense	PGL^b	Abdominal→HN	No
[21]	2015	30	NA	2	c.112delC	p.R38Vfs77X	Frameshift	PGL	Bladder	Yes
[22]	2015	54	M	7	c.647A > G	p.Y216C	Missense	PGL	HN	No
[22]	2015	38	M	–	Del exon 1,2,3,7,8	–	Large deletion	PGL	HN	Yes
[23]	2018	14	M	4	c.343C > T	p.R115X	Nonsense	PGL	Postcaval abdominal	No
[23]	2018	32	M	5	c.541-542A > G	IVS5-2A > G	Splice site	PGL	Para-aortic abdominal	No
[24]	2018	46	M	2	c.136C > T	p.R46X	Nonsense	PCC	Right adrenal gland	Yes
[25]	2018	12	F	2	c.136C > T	p.R46X	Nonsense	PGL	Upper left mediastinum	No
[26]	2019	16	F	4	c.423 + 1G > T	p.?	Splice site	PGL	Retroperitoneal	No
Current case	2019	23	F	6	c.563 T > C	p.L188P	Missense	PGL	Retroperitoneal	No

CBT Carotid body tumor, GJT Glomus jugulare tumor, GGT Glomus tympanicum tumor, NA Not applicable.
^a palindromic tumors
^b multiple tumors

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ISSN: 1471-2350

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