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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)Â¥

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)Â¥

Chinese

Hanks et al. [15]

Het

ISH/3 (family M)Â¥

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