Table 2.
Patient characteristics. This table gives an overview of all the patients included in this systematic review. For each patient the GGCX mutations are mentioned (cDNA and protein annotation) as well as the protein domain in which the affected amino acid is situated. Further, for each patient, the age, nationality/ethnicity and sex are provided.
| Id | Original Id | Allele 1 | Allele 2 | Age * | Nationality/Ethnicity | Sex | References | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| c.Annotation | p.Annotation | Protein Domain | c.Annotation | p.Annotation | Protein Domain | ||||||
| 1 | no. 20 | c.1181T>G | p.(L394R) | Glu-BS | c.1181T>G | p.(L394R) | Glu-BS | NP/14 | Arabic | F | Brenner et al., 1998 [13] |
| 2 | no. 21 | c.1181T>G | p.(L394R) | Glu-BS | c.1181T>G | p.(L394R) | Glu-BS | 5m/7 | Arabic | F | Brenner et al., 1998 [13] |
| 3 | no. 22 | c.1181T>G | p.(L394R) | Glu-BS | c.1181T>G | p.(L394R) | Glu-BS | NP/30 | Arabic | M | Brenner et al., 1998 [13] |
| 4 | no. 23 | c.1181T>G | p.(L394R) | Glu-BS | c.1181T>G | p.(L394R) | Glu-BS | NP/30 | Arabic | F | Brenner et al., 1998 [13] |
| 5 | proposita | c.469T>C | p.(W157R) | HTTM (TMD3) | c.1772C>A | p.(T591K) | RmlC-like | 2/11 | Tunisian | F | Dargouth et al., 2006 [24] |
| 6 | brothers | c.469T>C | p.(W157R) | HTTM (TMD3) | c.1772C>A | p.(T591K) | RmlC-like | 1 | Tunisian | M | Dargouth et al., 2006 [24] |
| 7 | patient | c.458A>G | p.(D153G) | HTTM (TMD3) | c.521T>G | p.(M174R) | HTTM | 4m | nd | F | Tie et al., 2016 [28] |
| 8 | III-3 | c.763G>A | p.(V255M) | HTTM | c.899C>T | p.(S300F) | HTTM (TMD4) | 16 | Caucasian | F | Li et al., 2009 [37] |
| 9 | III-1 | c.763G>A | p.(V255M) | HTTM | c.899C>T | p.(S300F) | HTTM (TMD4) | 19 | Caucasian | F | Li et al., 2009 [37] |
| 10 | A.B. [39], II-2 [40] | c.274C>T | p.(R83W) | HTTM | c.1120C>T | p.(Q374X) | TMD5 | 13/48 | Caucasian | F | Goldsmith et al., 1982 [47], Li et al., 2009 [48] |
| 11 | M.F. [39], II-3 [40] | c.274C>T | p.(R83W) | HTTM | c.1120C>T | p.(Q374X) | TMD5 | 18/46 | Caucasian | M | Goldsmith et al., 1982 [47], Li et al., 2009 [48] |
| 12 | patient | c.521T>G | p.(M174R) | HTTM | c.1595T>C | p.(I532T) | RmlC-like | 18 | Italian | M | Lunghi et al., 2011 [26] |
| 13 | A | c.215-1G>T | p.(G72_L124del) | HTTM (TMD1 and -2) | c.1454G>C | p.(R485P) | near PP-BS | 1 | German | M | Rost et al., 2004 [23], Rost et al., 2006 [49] |
| 14 | pt 4 | c.1502G>C | p.(W501S) | PP-BS | c.1502G>C | p.(W501S) | PP-BS | 7d | Lebanese | M | Spronk et al., 2000 [22] |
| 15 | patient | c.214+1G>T | Splice | HTTM (TMD1) | c.1609+3A>G | Splice | near PP-BS + RmlC-like | birth/6 | Mexican | M | Titapiwatanakun et al., 2009 [25] |
| 16 | pt 1 | c.1478G>C | p.(W493S) | near PP-BS | c.1478G>C | p.(W493S) | near PP-BS | 46 | Caucasian | F | Vanakker et al., 2007 [36], Watzka et al., 2014 [21] |
| 17 | pt 3 | c.1426C>T | p.(R476C) | near PP-BS | - | - | - | 67 | Caucasian | F | Vanakker et al., 2007 [36], Watzka et al., 2014 [21] |
| 18 | pt 4 | c.1427G>A | p.(R476H) | near PP-BS | - | - | - | 32 | Caucasian | F | Vanakker et al., 2007 [36], Watzka et al., 2014 [21] |
| 19 | pt 5 | c.1120C>T | p.(Q374X) | TMD5 | c.1610G>C | p.(G537A) | RmlC-like | 46 | Caucasian | F | Vanakker et al., 2007 [36], Watzka et al., 2014 [21] |
| 20 | pt 6 | c.1120C>T | p.(Q374X) | TMD5 | c.1610G>C | p.(G537A) | RmlC-like | 44 | Caucasian | M | Vanakker et al., 2007 [36], Watzka et al., 2014 [21] |
| 21 | B [41], A [19] | c.1211A>C | p.(H404P) | Glu-BS | c.1454G>C | p.(R485P) | near PP-BS | 22/38 | German | F | Rost et al., 2006 [49], Watzka et al., 2014 [21] |
| 22 | B | c.944G>A | p.(W315X) | HTTM | c.1454G>C | p.(R485P) | near PP-BS | 14/20 | German | F | Watzka et al., 2014 [21] |
| 23 | C1 | c.610C>T | p.(R204C) | HTTM | c.610C>T | p.(R204C) | HTTM | 2d/11 | former Yugoslavia | F | Watzka et al., 2014 [21] |
| 24 | C2 | c.610C>T | p.(R204C) | HTTM | c.610C>T | p.(R204C) | HTTM | 10/14 | former Yugoslavia | F | Watzka et al., 2014 [21] |
| 25 | D | c.248G>T | p.(R83P) | HTTM | c.248G>T | p.(R83P) | HTTM | 1/3 | Turkish | F | Watzka et al., 2014 [21] |
| 26 | E | c.610C>T | p.(R204C) | HTTM | c.610C>T | p.(R204C) | HTTM | 2m/4 | Turkish | M | Watzka et al., 2014 [21] |
| 27 | F | c.469T>C | p.(W157R) | HTTM (TMD3) | c.2085-5T>C | Splice | near Gla domain | 12/14 | Italian | F | Watzka et al., 2014 [21]] |
| 28 | G | c.850T>C | p.(S284P) | HTTM | c.944G>A | p.(W315X) | HTTM | 11/13 | German | F | Watzka et al., 2014 [21] |
| 29 | H | c.373G>A | p.(G125R) | HTTM (TMD2) | c.1601A>T | p.(D534V) | near PP-BS+RmlC-like | 5m/5 | German-Tunisian | M | Watzka et al., 2014 [21] |
| 30 | patient | c.1502G>C | p.(W501S) | PP-BS | c.1502G>C | p.(W501S) | PP-BS | 3d/3,5 | Lebanese | F | Moussalem et al., 2001 [50] |
| 31 | V4 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 11/40 | Iranian | F | Kariminejad et al., 2014 [40] |
| 32 | V6 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 12/52 | Iranian | M | Kariminejad et al., 2014 [40] |
| 33 | V7 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 12/37 | Iranian | M | Kariminejad et al., 2014 [40] |
| 34 | V10 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 25/48 | Iranian | F | Kariminejad et al., 2014 [40] |
| 35 | V11 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 14/40 | Iranian | F | Kariminejad et al., 2014 [40] |
| 36 | V12 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 12/34 | Iranian | M | Kariminejad et al., 2014 [40] |
| 37 | V14 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 14/16 | Iranian | F | Kariminejad et al., 2014 [40] |
| 38 | V16 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 10/21 | Iranian | M | Kariminejad et al., 2014 [40] |
| 39 | V17 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 16/23 | Iranian | M | Kariminejad et al., 2014 [40] |
| 40 | V18 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 11/29 | Iranian | M | Kariminejad et al., 2014 [40] |
| 41 | IV1 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 14/21 | Iranian | M | Kariminejad et al., 2014 [40] |
| 42 | IV5 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 12/28 | Iranian | M | Kariminejad et al., 2014 [40] |
| 43 | IV6 | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | c.373+3G>T | p.(F74_G125del) | HTTM (TMD1 and -2) | 12/21 | Iranian | F | Kariminejad et al., 2014 [40] |
| 44 | A.K. | 14 bp del I1 | - | - | 14 bp del I1 | - | - | 3m/9 | - | M | Thomas et al., 2003 [27] |
| 45 | D.K. | 14 bp del I1 | - | - | 14 bp del I1 | - | - | 6/15 | - | F | Thomas et al., 2003 [27] |
| 46 | propositus | c.1479G>T | p.(W493C) | Near PP-BS | c.2110C>T | p.(R704X) | Near Gla-domain | Birth/1 | French | M | Darghouth et al., 2009 [29] |
| 47 | infant | c.44-1G>A | p.(D15_F71del) | N-terminus + HTTM (TMD1) | c.44-1G>A | p.(D15_F71del) | N-terminus + HTTM (TMD1) | 14m/4 | Caucasian | M | Dasi et al., 2016 [30] |
C.annotation: cDNA-annotation; p.annotation: protein annotation; d: days; m: months (in “Age” column only); F: female (in “Sex” column only); Gla: gamma-carboxyglutamate; Glu-BS: glutamate binding site; HTTM: horizontally transferred transmembrane domain; Id: identification number; M: male (in “Sex” column only); m: month(s) (in “Age” column only); NP: neonatal period; PP-BS: propeptide binding site; pt: patient; RmlC: deoxythymidine-6-deoxy-d-xylo-4-hexulose 3,5 epimerase (EC5.1.3.13); RmlC-like: RmlC-like jelly roll fold; splice: splice site mutation; TMD: transmembrane domain; 14 bp del I1: 14 base pair deletion in intron 1 of the GGCX gene; * age is stated in years, unless otherwise specified; notation: age of first symptoms or of first examination/age a last follow-up.