Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

Table 1 Bardet-Biedl syndrome patients with resolved genotype

	Sex	Seg	Gene	Ex/ int	Nucleotide substitution	Protein substitution	Het/Homo	Type	Score [18]	Ref	RS	MAF
1	M	Yes	BBS2	ex9	c.1015C > T	p.(Arg339*)	Het	nonsense	P	[14]	rs193922710	N/A
1	M	Yes	BBS2	ex9	c.1062C > G	p.(Asn354Lys)	Het	missense	P
2	M	Yes	BBS10	ex2	c.1091del	p.(Asn364Thrfs*5)	Het	frameshift	P	[15]	rs727503818	0.00005
2	M	Yes	BBS10	ex2	c.1677del	p.(Tyr559*)	Het	nonsense	P	[4]
3	M		BBS7	ex8	c.763A > T	p.(Lys255*)	Homo	nonsense	P
4	F		BBS2	ex8	c.814C > T	p.(Arg272*)	Homo	nonsense	P	[16, 17]
			BBS12	ex2	c.116 T > C	p.Ile39Thr	Het	missense	fSNP	[19]	rs138036823
			INPP5E	ex1	c.532G > A	p.Val178Met	Het	missense	VUS
5	M		BBS10	ex2	c.271dup	p.(Cys91Leufs*5)	Homo	nonsense	P	[4, 20, 21]	rs549625604	0.0007
6	F		BBS12	ex2	c.1063C > T	p.(Arg355*)	Homo	nonsense	P	[22]	rs121918327	0.00002
6	F		BBS1	ex12	c.1016A > T	p.(His339Leu)	Het	missense	VUS
7	F	Yes	BBS10	ex2	c.641 T > A	p.(Val214Glu)	Homo	missense	P	[23]
8	M	Yes	BBS10	ex2	c.1676dup	p.(Tyr559*)	Het	nonsense	P	[24]
8	M	Yes	BBS10	ex2	c.962A > G	p.(Tyr321Cys)	Het	missense	LP	[23]
9	F		BBS12	ex2	c.1531_1539del	p.(Gln511_Gln513del)	Homo	inframe del	P	[4, 19]	rs752762669
10	M	Yes	BBS1	ex1	c.46A > T	p.(Ser16Cys)	Het	missense	LP		rs772917364	0.008458
			BBS1	ex13	c.1285dup	p.(Arg429Profs*72)	Het	frameshift	P
			BBS10	ex2	c.765G > A	p.(Met255Ile)	Het	missense	LB	[25]	rs139658279
			BBS14	ex10	c.829G > C	p.(Glu277Gln)	Het	missense	VUS	[26]	rs45502896
11	M	Yes	BBS4	int5	c.332 + 2_332 + 3insTT		Het	Insertion	P	[27]	rs753360929
			BBS4	ex13	c.1091C > A	p.(Ala364Glu)	Het	missense	P	[28]	rs28938468
			BBS8	ex4	c.254A > G	p.(Lys85Arg)	Het	missense	VUS		rs150880478
			BBS2	ex9	c.986 T > C	p.(Met329Thr)	Het	missense	VUS		rs201146063
12	F	Yes	BBS6	ex5	c.1235G > T	p.(Cys412Phe)	Homo	missense	LP

Never previously reported nucleotide substitutions are in bold
Abbreviations: M male, F female, seg segregation performed, ex exon, int intron, dup duplication, del deletion, ins insertion, het heterozygous, homo homozygous, P pathogenic, LP likely pathogenic, LB likely benign, VUS variant unknown significance, fSNP functional single nucleotide polymorphism, Ref references, RS dbSNP accession number, MAF minor allele frequency

ISSN: 1824-7288