Skip to main content

Table 3 HFS mutations reported in the literature (updated from Denadai et al. and Deuquet et al.) [19, 22]

From: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Mutation Location Domain Protein Hom/Het Phenotype/grading systema Ethnicity Reference
1) c.2 T > G Exon 1 Signal peptide p.M1R Hom ISH/3 Dominican Republican Antaya et al. [75]
2) c.116G > T Exon 1 vWFA p.C39F Het ISH/2 (patient1) N.D. Deuquet et al. [18]
3) c.134 T > C Exon 1 vWFA p.L45P Hom ISH/3 (family R) Bedouin Hanks et al. [15]
Hom ISH/4 Saudi Mohamed et al. [61]
4) c.148G > A Exon 1 vWFA p.D50N Hom ISH/? N.D. Deuquet et al. [19]
5) c.225- 4G > A Intron 2 vWFA Presumed splice defect Hom ISH/3 Indian Fong et al. [76]
6) c.277_278insATTATTT Exon3 vWFA p.L93Yfsa14 Hom ISH/3 Indian Koonuru and Venugopal [77]
Indian Aggarwal et al. [78]
7) c.304_305insA Exon 4 vWFA p.I102Nfsa12 Het ISH/3 Chinese Huang et al. [79]
8) c.314G > A Exon 4 vWFA p.G105D Hom JHF/3 (family JHF1) Turkish Dowling et al. [14]
9) c.347G > T Exon 4 vWFA p.G116V Hom ISH/3 Turkish Tümer et al. [64]
Hom JHF/2 (patients VI-4, VI-5, VI-10 et V-15)
ISH/3 patient VI-3
Lebanese This report
10) c.353C > A Exon 4 vWFA p.T118K Hom ISH/4 Mexican Lindvall et al. [80]
11) c.487-2A > G Intron 5 vWFA p.A163_Q185del;
p.A163_K164del
Het ISH/3 (Patient 5) Brazilian Denadai et al. [22]
12) c.495_496insA Exon6 vWFA p.S166Ifsa7 Hom ISH/3 (family N and O) Moroccan and Pakistani Hanks et al. [15]
13) c.566 T > C Exon 7 vWFA p.I189T Het ISH/2 (family ISH2) Swiss Dowling et al. [14]
Het ISH/3 (family L) European/Swiss Hanks et al. [15]
14) c.652 T > C Exon 8 vWFA p.C218R Hom ISH/3 (family K) Fijian/East Indian Hanks et al. [15]
15) c.658G > T Exon 8 vWFA p.E220X Hom ISH/4 (family ISH1) Turkish Dowling et al. [14]
16) c.697 + 1dupG Intron 8 Ig-like domain G232insG Het ISH/? N.D. Deuquet et al. [19]
17) c.697 + 1 G > A Intron 8 Ig-like domain Presumed splice defect Het ISH/3 (family I) European/Canadian Hanks et al. [15]
18) c.796 + 2 T > C Intron 9 Ig-like domain Presumed splice defect Het JHF/2 (family E)¥ European Hanks et al. [15]
19) c.867_945del Exon 11 Ig-like domain p.E289Dfsa22 Hom ISH/4 Omani Al Sinani et al. [81]
20) c.876_877insCAA Exon 11 Ig-like domain p.D292_VinsQ Hom JHF/2 (family G) East Turkish Hanks et al. [15]
21) c.928G > T Exon 11 Ig-like domain p.V310F Het ISH/2 (patient2) N.D. Deuquet et al. [18]
22) c.945 T > G Exon 11 Ig-like domain p.C315W Hom ISH/4 (patient 3) N.D. Deuquet et al. [18]
c.946-2A > G Intron11 Ig-like domain Presumed splice defect Hom ISH/4 (patient 1) Iranian Youssefian et al. [82]
23) N.D. Exon11/12 Ig-like domain- Transmembrane Presumed deletion Hom ISH/? N.D. Deuquet et al. [19]
24) c.986 T > G Exon 12 Transmembrane p.L329R Hom JHF/1 (family JHF2) African American Dowling et al. [14]
25) c.1073_1074insC Exon 13 Cytoplasmic p.A359Cfsa13 Het ISH/2 (family ISH2) Swiss Dowling et al. [14]
26) c.1073_1074insC Exon 13 Cytoplasmic p.A359Cfsa13 Het ISH/3 N.D. Rahvar et al. [83]
Het ISH/3 (family J)¥ Chinese Hanks et al. [15]
Het ISH/3 (family M)¥ Puerto Rican + African American Hanks et al. [15]
Hom ISH/3 (family P) United States, Hispanic Hanks et al. [15]
Hom ISH/3 Taiwanese Lee et al. [60]
Hom ISH/4 (patient 1) Mexican Shieh et al. [84]
Het ISH/3 (patient 3)
Het ISH/4 (patient 4) Brazilian Denadai et al.[22]
Het ISH/2 (patient 2) N.D. Deuquet et al. [18]
Hom ISH/3 (patient4) N.D. Deuquet et al. [18]
Het ISH/3 Japanese Sugiura et al. [85]
Hom ISH/2 North Indian Narayanan and Phadke, [58]
Hom ISH/3 (patient 2) Iranian Youssefian et al. [82]
27) c.1073_1074insCC Exon 13 Cytoplasmic p.A359Lfsa51 Het ISH/3 (family L) European/Swiss Hanks et al. [15]
28) c.1074delT Exon 13 Cytoplasmic p.A359Hfsa50 Hom ISH/3 (family Q) Kuwaiti Hanks et al. [15]
Hom ISH/3 Iranian Vahidnezhad et al. [86]
Het ISH/3 Chinese Huang et al. [79]
Het ISH/3 Japanese Hatamochi et al. [39]
Hom ISH/4 (family 1) Egyptian El-Kamah et al. [87]
Hom ISH/2 Moroccan Jaouad et al. [9]
Het ISH/3 (patient 2 and 5) Brazilian Denadai et al. [22]
Het ISH/2 (patient3) Brazilian Denadai et al. [22]
Het ISH/4 (patient4) Brazilian Denadai et al. [22]
Het ISH/2 (patient1) N.D. Deuquet et al. [18]
Hom ISH/4 (family1) Egyptian El Kamah et al. [87]
Hom ISH/2 (patient3) Iranian Youssefian et al. [82]
29) c.1075insT Exon 13 Cytoplasmic p.A359Vfsa13 Het ISH/? N.D. Deuquet et al. [19]
30) c.1086 + 1G > A Intron13 Cytoplasmic p.V394Ifsa6 Hom JHF/2 (families C and F) Turkish/European Hanks et al. [15]
31) c.1087_1706del Intron 13-17 Cytoplasmic Presumed deletion Hom ISH/4 (patient 2) Mexican Shieh et al. [84]
32) c.1142A > G Exon 14 Cytoplasmic p.Y381C Hom JHF/1 (family D) Moroccan Hanks et al. [15]
Hom ISH/3 Moroccan Mallet et al. [88]
33) c.1150C > T Exon 14 Cytoplasmic p.R384X Het ISH/3 (family I) European/Canadian Hanks et al. [15]
34) c.1156G > T Exon 14 Cytoplasmic p.V386F Hom JHF/2 Turkish Hakki et al. [72]
35) c.1179G > A Exon 14 Cytoplasmic p.E363_E393del Hom JHF/2 (families A and B) Indian Hanks et al. [15]
36) c.1179 + 1 G > A Intron 14 Cytoplasmic Presumed splice defect Hom ISH/3 Chinese Wang et al. [89]
37) c.1179 + 5G > T Intron 14 Cytoplasmic Presumed splice defect Hom JHF/2 (family H) Turkish Hanks et al. [15]
38) c.1180_1428del Introns 14–16 Cytoplasmic p.V394_E476del Het ISH/3 (patient 2) ISH/2 (patient3) Brazilian Denadai et al. [22]
39) c.1181 T > C Exon 14 Cytoplasmic p.V394A Het ISH/3 Japanese Hatamochi et al. [39]
40) c.1294C > T Exon 15 Cytoplasmic p.R432X Het ISH/3 (patient 3) Mexican Shieh et al. [84]
Het ISH/3 N.D. Rahvar et al. [83]
Het ISH/3 Japanese Sugiura et al. [85]
41) c.1340delC Exon 15 Cytoplasmic p.P447Qfsa13 Hom JHF/2 (family 2) Egyptian El-Kamah et al. [87]
  1. Hom homozygous for mutation, Het heterozygous for mutation, N.D. not determinated
  2. aGrading system according to classification of Nofal et al., and Denadai et al., [17, 22]
  3. ¥Compound heterozygote with only 1 mutation found
  4. This is presumed since patient DNA could not be amplified for this region of the gene