Corrigendum

In the following article1, the authors would like to correct several inaccuracies in the Table 1, 2 and the supplementary figure.

In the RESULTS on page 708, we stated that “Among the 170 probands, we detected 45 known mutations and three novel variants.” Actually, there were several inaccuracies in describing the mutations in table 2.

• 1c.351C>T (p.Cys117Trp)

Actually, the mutation was NM_000435.2: c.351C>G. Please see the chromatogram below. It was a novel mutation. According to 2015 ACMG guideline, it was defined as “pathogenic”. (PS1+PM1+PM2+PP3+PP4)

• 2c.719G>A (p.Cys240Ser)

Actually, the mutation was NM_000435.2: c.719G>A (p.Cys240Tyr). Please see the chromatogram below. It was a novel mutation. According to 2015 ACMG guideline, it was defined as “pathogenic”. (PS1+PM1+PM2+PP3+PP4)

• 3c.1339C>T (p.Arg421Cys)

Actually, the mutation was NM_000435.2: c.1261C>T (p.Arg421Cys). Please see the chromatogram below.

Besides, we only stated 3 novel variants, and confirmed one as “likely pathogenic”. Actually, we were misled by the description on the MutationTaster which told us such mutation was known mutation at this position. (Please see the screenshot below, which was the description of NM_000435.2: c.322T>G p. Cys108Gly predicted by MutationTaster.) However, the recognition of novel mutations was mainly performed between May 4, 2009, and March 6, 2016, during which time we did not obtain the access to the HGMD professional.

After carefully check using the HGMD professional database, we confirm other 10 novel mutations.

The corrected Tables 1, 2 and supplementary figure are provided below,

Table 1.

Novel variants in Chinese patients with CADASIL

Patients/Gender	AAO	Manifestations	Family history	Nucleotide alteration	Protein alteration	SIFT	Polyphen‐2	1000g	ExAC	Variants classificationa , b
1/F	56	Ischemic stroke, cognitive impairment, mood disturbance	Yes	c.198‐1G>A	–	–	–	0	0	Likely Pathogenic
2/F	43	Headache, dizziness, cognitive impairment	Yes	c.945delC	Ile315Metfs*57	–	–	0	0	Likely Benign
3/F	40	Migraine, ischemic stroke, cognitive impairment	Yes	c.1817G>T	Cys606Phe	Damaging	Probably damaging	0	0	Pathogenic
4/M	55	Headache	Yes	c.2656C>T	Arg886Cys	Tolerated	Possibly damaging	0	0	Uncertain
5/M	57	cognitive impairment, behavior abnormality	Yes	c.602G>C	Cys201Ser	Damaging	Probably damaging	0	0	Pathogenic
6/M	41	Ischemic stroke, cognitive impairment, mood disturbance	Yes	c.665G>T	Cys222Phe	Damaging	Probably damaging	0	0	Pathogenic
7/M	57	Ischemic stroke	No	c.1646G>C	Cys549Ser	Damaging	Probably damaging	0	0	Pathogenic
8/M	50	Headache	Yes	c.322T>G	Cys108Gly	Damaging	Probably damaging	0	0	Pathogenic
9/M	35	Ischemic stroke	No	c.719G>A	Cys240Tyr	Damaging	Probably damaging	0	0	Pathogenic
10/F	49	Ischemic stroke, cognitive impairment, mood disturbance	No	c.351C>G	Cys117Trp	Damaging	Probably damaging	0	0	Pathogenic
11/M	36	Headache, dizziness, Ischemic stroke, ICH, cognitive impairment	Yes	c.1677C>G	Cys559Trp	Damaging	Probably damaging	0	0	Pathogenic
12/M	47	cognitive impairment, mood disturbance	Yes	c.128G>A	Cys43Tyr	Damaging	Possibly damaging	0	0	Likely Pathogenic

AAO, Age at onset; AA, Amino Acid; 1000g, 1000 Genomes Project database; ExAC, Exome Aggregation Consortium database; ICH, Intracranial hemorrhage.

^aRichards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405‐424.

^bRutten JW, Haan J, Terwindt GM, et al. Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. Expert Rev Mol Diagn. 2014;14:593‐603.

Table 2.

Mutations identified in CADASIL patients in the current study

Exon	Nucleotide alteration	Protein alteration	EGF repeat	Number of pedigrees	Frequency of mutations (%)
Exon 2	c.128G>A	p.Cys43Tyr	1	1	0.60
Exon 3	c.213G>T	p.Trp71Cys	1	1	0.60
	c.268C>T	p.Arg90Cys	2	15	8.93
	c.322T>G	p.Cys108Gly	2	1	0.60
	c.328C>T	p.Arg110Cys	2	6	3.57
Exon 4	c.351C>G	p.Cys117Trp	2	1	0.60
	c.397C>T	p.Arg133Cys	3	3	1.79
	c.401G>A	p.Cys134Tyr	3	1	0.60
	c.421C>T	p.Arg141Cys	3	8	4.76
	c.430T>A	p.Cys144Ser	3	1	0.60
	c.457C>T	p.Arg153Cys	3	11	6.55
	c.465C>G	p.Cys155Trp	3	1	0.60
	c.505C>T	p.Arg169Cys	4	14	8.33
	c.511G>T	p.Gly171Cys	4	1	0.60
	c.544C>T	p.Arg182Cys	4	6	3.57
	c.566A>G	p.Tyr189Cys	4	1	0.60
	c.580T>A	p.Cys194Ser	4	1	0.60
	c.580T>C	p.Cys194Arg	4	1	0.60
	c.581G>A	p.Cys194Tyr	4	3	1.79
	c.602G>C	p.Cys201Ser	5	1	0.60
	c.636C>G	p.Cys212Trp	5	1	0.60
	c.665G>T	p.Cys222Phe	5	1	0.60
Exon 5	c.697T>C	p.Cys233Arg	5	1	0.60
	c.719G>A	p.Cys240Tyr	6	1	0.60
	c.751T>C	p.Cys251Arg	6	1	0.60
	c.752G>A	p.Cys251Tyr	6	1	0.60
	c.773A>G	p.Tyr258Cys	6	1	0.60
	c.779G>T	p.Cys260Phe	6	1	0.60
Exon 6	c.994C>T	p.Arg332Cys	8	4	2.38
	c.1010A>G	p.Tyr337Cys	8	1	0.60
Exon 8	c.1261C>T	p.Arg421Cys	10	1	0.60
Exon 11	c.1625G>A	p.Cys542Tyr	13	1	0.60
	c.1630C>T	p.Arg544Cys	13/14	26	15.48
	c.1646G>C	p.Cys549Ser	14	1	0.60
	c.1672C>T	p.Arg558Cys	14	1	0.60
	c.1677C>G	p.Cys559Trp	14	1	0.60
	c.1759C>T	p.Arg587Cys	15	5	2.98
	c.1817G>T	p.Cys606Phe	15	2	1.19
	c.1819C>T	p.Arg607Cys	15	32	19.05
Exon 12	c.1918C>T	p.Arg640Cys	16	1	0.60
	c.2038C>T	p.Arg680Cys	17	1	0.60
Exon 17	c.2656C>T	p.Arg886Cys	22/23	1	0.60
Exon 18	c.2929T>A	p.Cys977Ser	25	1	0.60
	c.2951T>G	p.Phe984Cys	25	1	0.60
	c.2963G>A	p.Cys988Tyr	25	1	0.60
Exon19	c.3091C>T	p.Arg1031Cys	26	1	0.60

EGF, Epidermal growth factor.

Supplementary Figure:

The authors apologize for the error.

Supporting information