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. 2018 Dec 13;7(3):555–570. doi: 10.1016/j.jcmgh.2018.12.001

Table 1.

Mutations, Clinical Phenotypes, and Outcomes of Reported TTC7A-Deficiency Patients

Patient Cited mutationsa TPR Δ Ethnicity MIA IBD CID Alive/deceased, ageb; cause
S1-51 Hom c.1000+ 3del AAGT, Ex7 del + French Canadian + Deceased, <7 days; MIA
S61 Het c.1000+ 3del AAGT, Ex7 del; c. 133074 A>G Ex20; p.L823P + French Canadian + Deceased, 47 days; MIA
S71 Het c.1000+ 3del AAGT, Ex7 del; c. 133074 A>G Ex20; p.L823P + French Canadian + + + Deceased, 1 y; MIA
C12 Hom c.1919+1G>A Ex16 del + Arabic + + Deceased, 3 mo; Candida sepsis
C22 Hom c. 313 del TATC, Ex2/Ex3 del p.Y105fs + Serbian + + Deceased, 1 mo; MIA
C32 Hom c. 313 del TATC, Ex2/Ex3 del p.Y105fs + Bosnian + + Alive, 2.8 y
C42 Het c.762 del G Ex5;p.K254fs c.2468T>C Ex20; p.L823P + Unknown + + Alive, 2 y
C52 Het c.1817A>G Ex16, p.K606Rc c.2014 T>C Ex17, p.S672Pc
c.1000+ 3del AAGT, Ex7 del		 French Canadian, mixed European + + Alive, 22 mo
C62 Het c.2033C>A Ex18; p.S678X; c.2134C>T Ex18; p.Q712X + Italian + + + Deceased, 10 mo; pneumonitis
C72 Hom c.1196T>C Ex9; p.L399P Italian + + Alive, 9 mo
C82 Unknown mutations
Ex2 Ex3 del		 + Italian + + Deceased, 8 mo; sepsis
A13 Het c.211G>A Ex2; p.E71K; c.1578C>T Ex14; p.Q526X + Caucasian/Sudanese + + + Deceased, 11 mo; parainfluenza pneumonia, ARDS
A23 Het c.844-1G>T, Ex 7 del; c.1204-2A>G, Ex 10 del + Caucasian + + + Deceased, 3 mo; pulmonary embolism
A33 Het c.844-1G>T, Ex 7 del; c.1204-2A>G, Ex 10 del + Caucasian + + Deceased, 19 mo; cardiac arrest
A43 Hom c.2494 G>A Ex20; p.A832T + Caucasian + Alive, 14 mo
A53 Hom c.2494 G>A Ex20; p.A832T + Caucasian + Deceased, 11 mo; Candida sepsis
Ag14 Het c.1652 C>A Ex15; p.A551D c.2482C>T Ex20; p.E828X + Irish/Ashkenazi Jewish + + Alive, 7 mo
B15 Het c.185-348 del Ex2; p.D62-S116 del c.185-517 del Ex2/3; p.D62-173G del Mixed European + + Deceased, 2.5 y; sepsis
B25 Hom c. 829 C>T; p.Q277X Ex 6 del Saudi Arabian + + Deceased, 9 mo; pulmonary hemorrhage
B35 Hom c.2496 del CG Ex20, p.A832X + Sri Lankan + + Alive, 73 mo
B45 Het c.1288-1392 del Ex 12 del; c.1616C>T Ex 14; p.S539L Norwegian + + Deceased, 8 mo; sepsis
B55 Het c.1008C>G Ex8; p.Y336X c.1479 delG Ex 12; p.L493 fsX13 Mixed European + + Deceased, 3.9 y; virus pneumonia
B65 Het c.1510+105 T>A Ex12 del; c.1673 insG Ex15; p.A558GfsX7 Mixed European + + Deceased, 7 mo; cytomegalovirus pneumonitis
L16 Hom c.211G>A Ex2, p.E71K French + + Alive, 5 mo
L26 Hom c.211G>A Ex2, p.E71K Deceased, 6 mo; HSCT
L36 Hom c.211G>A Ex2, p.E71K Deceased, 9 mo; HSCT
L46 Hom c.211G>A Ex2, p.E71K Deceased, 8 mo; enteropathy
L56 Hom c.211G>A Ex2, p.E71K Alive, 10 mo
L66 Hom c.211G>A Ex2, p.E71K Alive, 10 mo
L76 Hom c.211G>A Ex2, p.E71K Alive, 2 y
L86 Hom c.211G>A Ex2, p.E71K Alive, 4 y
L96 Hom c.211G>A Ex2, p.E71K Deceased, 4 y; sepsis
L106 Hom c.211G>A Ex2, p.E71K Deceased, 14 y; gastric carcinoma
L116 Hom c.211G>A Ex2, p.E71K Alive, 14 y
L126 Hom c.211G>A Ex2, p.E71K Alive, 28 y
L136 Hom c.211G>A Ex2, p.E71K Alive, 50 y
L146 Het c.911T Ex7; p.L304 fsX59; c.1433T>C Ex12, p. L478P French + Alive, 18 mo
G17 Hom c. 313 del TATC, Ex2/Ex3 del p.Y105fs + Bosnian + + Alive, 3 y
W18 Hom c.1037 T>C Ex8; p.L346P Turkish + + Deceased, 15 mo, sepsis
Y19 Het c.2018-2 A>G; Ex18 del c.2569 G>T Ex20; p.E857X + Malaysian + Deceased, 27 mo, sepsis
Y29 Het c.2018-2 A>G; Ex18 del c.2569G>T Ex20; p.E857X + Malaysian + Deceased, 3 days, sepsis
K110 Het p.E191FsX; Ex4 p.I854F Ex20 + Mediterranean + Alive, 77 mo
K210 Hom p.G45_A55 del Ex1 Middle Eastern + + Alive, 86 mo
K310 Het p.E71K Ex2 p.E96 Ex2 British + + Alive, 20 mo
Li111 Het c.223 G>A p.E75K Ex2 c. 520-521 del CT fs174X27 Ex4 + Taiwanese + + Deceased, 8 mo, sepsis
Li211 Het c.223 G>A p. E75K Ex 2 c. 520-521 del CT fs174X27 Ex4 + Taiwanese + + Deceased, 4 mo, liver failure
La112 Het c.1817A>G; p.K606R Ex16 c.2014 T>C; p.S672P Ex17 European CVID Alive, 15 y
N113 Het c.1616 C>T p. S539L Ex14 c. 2515 G>A p.A839T Ex20 +
+		 Portuguese + + + Alive, 3 y
M114 Hom c. 53344_53347 del Unknown
Consanguineous		 + + Deceased, 8 mo; graft-versus-host disease, liver failure
F115 Hom c.1709A>G; p.H570R Ex15 + North African + + + Alive, 43 mo
F215 Het c. 189C>G; p.D63E Ex2 c. 412 C>T; p.R138X Ex3 + Unknown + + Alive, 18 mo

NOTE. Superscript numbers in Patient column refer to reference citations.

ARDS, acute respiratory distress syndrome; c, complementary DNA location; CVID, common variable immune deficiency; Het, compound heterozygous mutation; Hom, homozygous mutation; p. protein or amino acid location.

a

National Center for Biotechnology Information reference sequences for TTC7A were absent or varied between publications. Among the 15 reports citing TTC7A-deficiency patients, 63, 5, 6, 8, 9, 15 referenced mutations with NM_020458.3 (transcript variant 2, coding sequence from 369 to 2945 nucleotides) and NP_065191.2 (isoform 2, 858 amino acids). Lien et al11 and Neves et al13 reported mutations based on NM_001288951.1 (transcript variant 1, coding sequence from 369 to 3017 nucleotides) and NP_001275880.1 (isoform 1, 882 amino acids). Samuels et al1 based DNA annotations on NC_000002.11 because one of the mutations affected an intronic region, however, the protein annotation was based on NP_065191.2. To our knowledge, the remaining 62, 4, 7, 10, 12, 14 publications did not report the National Center for Biotechnology Information coding sequence and protein reference codes.

b

Surviving patient age is as reported in the original publication.

c

Maternal.