Biallelic mutations of TTC12 and TTC21B were identified in Chinese patients with multisystem ciliopathy syndromes

Table 1 Clinical phenotypes of six affected individuals carrying biallelic TTC12 and TTC21B mutations in this study

Individual	F1-II-1	F1-II-2	F2-II-1	F3-II-1	F4-II-1	F5-II-1
Mutations	TTC21B:c.1656_1659del	TTC21B:c.1656_1659del	TTC21B:c.2322 + 3A > G	TTC12:c.1464 + 2 T > C	TTC12:c.1464 + 2 T > C	TTC12:c.1799 T > A
Mutations	TTC21B:c.1552 T > C	TTC21B:c.1552 T > C	TTC21B:c.349 T > C	homozygous	TTC12:c.1625G > T	TTC12:c.2071G > A
Amino acids	p.C552fs	p.C552fs	Splicing site	Splicing Donor	Splicing Donor	p.V600E
change	p.C518R	p.C518R	p.F117L	Splicing Donor	p.G542V	p.G691S
MAF in	0.00	0.00	0.0073	0.0033	0.0033	0.000
GnomAD	0.00	0.00	0.00	0.0033	0.0002	0.0019
SIFT scores	0.001-D	0.001-D	NA	LOF	LOF	0.002-D
SIFT scores	LOF	LOF	0.034-D	LOF	0.006-D	0.000-D
Poly-phen2	0.981-D	0.981-D	NA	LOF	LOF	0.991-D
Poly-phen2	LOF	LOF	0.034-B	LOF	1.000-D	1.000-D
Mutation Taster	0.999-D	0.999-D	NA	LOF	LOF	0.911-D
Mutation Taster	LOF	LOF	0.999-D	LOF	0.999-D	0.999-D
Age	6 years	1 years	6 years	10 years	2 years	4 years
Sexuality	Male	Female	Male	Male	Female	Male
Respiratory Symptoms	N	N	N	Y	Y	N
Laterality defects	Y	N	N	Y	Y	Y
Complex CHD	N	N	Y	Y	N	N
Nephronophthisis	Y	N	N	N	N	N
Neonatal Cholestasis	N	Y	N	N	N	N
Other Complications	Renal hypertension	Hyperlipidemia, Chronic renal disease	N	N	N	N

NA Not available; CHD Congenital heart disease; MAF Minor allele frequency; LOF Loss of function; D Damaging and deleterious; B Benign

ISSN: 1479-7364