Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports
Abstract
:1. Introduction
2. Case Reports
3. Clinical Characteristics in Desbuquois Dysplasia
4. Molecular Genetics
5. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Reference | Gender | Birth Weight (g) | Birth Length (cm) | Birth OFC (cm) | Type |
---|---|---|---|---|---|
[5] | F | 2100 | DBQD1 | ||
F | 2200 | DBQD1 | |||
[6] | M | 2260 | DBQD1 | ||
M | 2600 | 38 | DBQD1 | ||
M | 2700 | DBQD1 | |||
[7] | F | 3000 | 40 | DBQD2 | |
F | 40 | DBQD2 | |||
[8] | M | 2880 | DBQD2 | ||
[9] | F | DBQD2 | |||
F | DBQD2 | ||||
[10] | F | 3370 | 42 | 34 | DBQD2 |
[11] | M | 2100 | 43 | DBQD1 | |
M | 2850 | 41.5 | 33 | DBQD2 | |
F | 2630 | 41 | 32.5 | DBQD2 | |
M | DBQD2 | ||||
M | DBQD2 | ||||
[12] | M | 1325 | 32 | 30.5 | DBQD1 |
[13] | F | 2490 | 35 | DBQD2 | |
3300 | DBQD2 | ||||
[14] | F | DBQD1 | |||
F | DBQD1 | ||||
M | DBQD1 | ||||
F | DBQD1 | ||||
M | DBQD1 | ||||
F | 2270 | 37 | 33 | DBQD1 | |
F | 2255 | DBQD1 | |||
[15] | F | 2880 | 41 | 34 | DBQD2 |
M | 3400 | 42 | 36 | DBQD2 | |
M | 1900 | 37 | 32.5 | DBQD1 | |
[16] | M | 2250 | DBQD1 | ||
[17] | M | 2730 | 49.3 | 32.5 | DBQD2 |
[18] | F | 2820 | 48 | DBQD2 | |
M | 3200 | DBQD2 | |||
3000 | DBQD2 | ||||
[19] | M | DBQD1 | |||
M | DBQD1 | ||||
M | DBQD1 | ||||
[20] | F | 2900 | 40 | DBQD2 | |
37 | DBQD2 | ||||
[21] | M | 42 | DBQD2 | ||
[22] | F | 2400 | 44 | 35 | |
M | 3100 | 49 | 37 | ||
F | |||||
[23] | F | 1055 | 30 | 25.5 | DBQD1 |
[24] | F | DBQD1 | |||
[25] | M | DBQD1 | |||
[26] | F | 34 | DBQD1 | ||
M | 33 | DBQD1 | |||
M | 34 | DBQD1 | |||
F | DBQD1 | ||||
M | DBQD1 | ||||
M | 43 | DBQD1 | |||
M | DBQD1 | ||||
M | 37 | DBQD1 | |||
M | 36 | DBQD1 | |||
M | 35 | DBQD1 | |||
[27] | M | 2100 | 36.5 | 32 | DBQD1 |
[28] | M | 3400 | DDKV | ||
M | 3200 | DDKV | |||
M | 3200 | 46 | DDKV | ||
F | 3500 | 52 | DDKV | ||
F | 2100 | DDKV | |||
M | 2400 | DDKV | |||
M | DDKV | ||||
[29] | DBQD1 | ||||
DBQD2 | |||||
DBQD2 | |||||
DDKV | |||||
[30] | M | DBQD1 | |||
M | DBQD1 | ||||
M | DBQD1 | ||||
[31] | DBQD1 | ||||
41 | DBQD1 | ||||
DBQD1 | |||||
DBQD1 | |||||
DBQD1 | |||||
DBQD1 | |||||
DDKV | |||||
DBQD2 with atypical hand anomalies | |||||
[32] | F | 37 | DBQD2 | ||
M | 41 | DBQD2 | |||
F | 2000 | DBQD2 | |||
M | 2570 | 39 | 33 | DBQD2 | |
44 | DBQD2 | ||||
43 | DBQD2 | ||||
1200 | 33 | DBQD2 | |||
[33] | M | 1687 | 31 | 32.3 | DBQD1 |
[34] | M | DDKV | |||
M | DDKV | ||||
F | DDKV | ||||
[35] | M | 2930 | 45 | 37 | DBQD2 |
[36] | F | 2500 | DBQD2 | ||
[37] | 2510 | 40.5 | DBQD2 | ||
[38] | M | 2440 | 38 | 33 | DBQD2 |
[39] | F | 2600 | DBQD2 | ||
1800 | DBQD2 | ||||
1700 | 36 | 31 | DBQD2 | ||
[40] | F | DBQD1 | |||
[41] | M | DBQD1 | |||
[42] | DBQD1 | ||||
DBQD1 | |||||
DBQD1 | |||||
[43] | DDKV | ||||
[44] | DBQD1 | ||||
[45] | M | DDKV | |||
[46] | F | 1850 | DBQD1 | ||
M | 1000 | DBQD1 | |||
[47] | DBQD2 | ||||
[48] | DBQD1 | ||||
DBQD1 |
Type of Dysplasia | ||||
---|---|---|---|---|
DBQD1 n (%) | DBQD2 n (%) | DDKV n (%) | In Total n (%) | |
Antenatal case | 15 (28%) | 1 (3%) | 0 (0%) | 16 (15%) |
Early death (shortened life expectancy) | 15 (28%) | 2 (5%) | 0 (0%) | 17 (16%) |
RDS/respiratory failure/respiratory arrest | 14 (26%) | 10 (26%) | 0 (0%) | 24 (22%) |
Dysmorphic Features and Associated Clinical Findings | ||||
Narrow chest (HP:0000774) | 27 (50%) | 21 (54%) | 1 (7%) | 49 (46%) |
Depressed nasal bridge (HP:0005280) | 20 (37%) | 17 (44%) | 9 (64%) | 46 (43%) |
Proptosis (HP:0000520) | 19 (35%) | 18 (46%) | 8 (57%) | 45 (42%) |
Round face (HP:0000311) | 20 (37%) | 14 (36%) | 10 (71%) | 44 (41%) |
Short neck (HP:0000470) | 25 (46%) | 13 (33%) | 2 (14%) | 40 (37%) |
Flat face (HP:0012368) | 19 (35%) | 19 (49%) | 1 (7%) | 39 (36%) |
Micrognathia (HP:0000347) | 23 (43%) | 9 (23%) | 0 (0%) | 32 (30%) |
Midface retrusion (HP:0011800) | 18 (33%) | 9 (23%) | 3 (21%) | 30 (28%) |
Hypotonia (HP:0001252) | 15 (28%) | 4 (10%) | 4 (29%) | 23 (21%) |
Talipes equinovarus (HP:0001762) | 15 (28%) | 2 (5%) | 5 (36%) | 22 (21%) |
Scoliosis (HP:0002650) | 8 (15%) | 6 (15%) | 7 (50%) | 21 (20%) |
Genu varum (HP:0002970) | 4 (7%) | 7 (18%) | 9 (64%) | 20 (19%) |
Pes planus (HP:0001763) | 3 (6%) | 6 (15%) | 8 (57%) | 17 (16%) |
Clinodactyly (HP:0030084) | 17 (31%) | 0 (0%) | 0 (0%) | 17 (16%) |
Long philtrum (HP:0000343) | 9 (17%) | 7 (18%) | 0 (0%) | 16 (15%) |
Cleft palate (HP:0000175) | 6 (11%) | 10 (26%) | 0 (0%) | 16 (15%) |
Hypertelorism (HP:0000316) | 2 (4%) | 6 (15%) | 7 (50%) | 15 (14%) |
Broad thumb (HP:0011304) | 14 (26%) | 1 (3%) | 0 (0%) | 15 (14%) |
Anteverted nares (HP:0000463) | 6 (11%) | 7 (18%) | 0 (0%) | 13 (12%) |
Blue sclerae (HP:0000592) | 3 (6%) | 7 (18%) | 1 (7%) | 11 (10%) |
Retrognathia (HP:0000278) | 7 (13%) | 4 (10%) | 0 (0%) | 11 (10%) |
Flexion contracture of the digit (HP:0030044) | 9 (17%) | 1 (3%) | 1 (7%) | 11 (10%) |
Short hallux (HP:0010109) | 2 (4%) | 0 (0%) | 9 (64%) | 11 (10%) |
Short nose (HP:0003196) | 6 (11%) | 4 (10%) | 0 (0%) | 10 (9%) |
Short finger (HP:0009381) | 5 (9%) | 4 (10%) | 1 (7%) | 10 (9%) |
Sandal gap (HP:0001852) | 2 (4%) | 0 (0%) | 8 (57%) | 10 (9%) |
Metatarsus adductus (HP:0001840) | 2 (4%) | 1 (3%) | 7 (50%) | 10 (9%) |
Narrow mouth (HP:0000160) | 8 (15%) | 1 (3%) | 0 (0%) | 9 (8%) |
Abdominal distention (HP:0003270) | 5 (9%) | 4 (10%) | 0 (0%) | 9 (8%) |
Hyperlordosis (HP:0003307) | 4 (7%) | 5 (13%) | 0 (0%) | 9 (8%) |
Genu valgum (HP:0002857) | 3 (6%) | 6 (15%) | 0 (0%) | 9 (8%) |
Smooth philtrum (HP:0000319) | 7 (13%) | 1 (3%) | 0 (0%) | 8 (7%) |
Concave nasal ridge (HP:0011120) | 7 (13%) | 1 (3%) | 0 (0%) | 8 (7%) |
Long fingers (HP:0100807) | 0 (0%) | 0 (0%) | 8 (57%) | 8 (7%) |
Obesity (HP:0001513) | 2 (4%) | 5 (13%) | 1 (7%) | 8 (7%) |
Brachycephaly (HP:0000248) | 7 (13%) | 1 (3%) | 0 (0%) | 8 (7%) |
Brachydactyly (HP:0001156) | 4 (7%) | 3 (8%) | 0 (0%) | 7 (7%) |
Proximal placement of the thumb (HP:0009623) | 7 (13%) | 0 (0%) | 0 (0%) | 7 (7%) |
Joint dislocation | ||||
Joint hypermobility/dislocation (HP:0001382/HP:0001373) | 43 (80%) | 29 (74%) | 13 (93%) | 85 (79%) |
Dislocation of the knee (HP:0004976) | 18 (33%) | 8 (21%) | 8 (57%) | 34 (32%) |
Hip dislocation (HP:0002827) | 15 (28%) | 8 (21%) | 2 (14%) | 25 (23%) |
Phalangeal dislocation (HP:0006243) | 11 (20%) | 1 (3%) | 9 (64%) | 21 (20%) |
Elbow dislocation (HP:0003042) | 11 (20%) | 3 (8%) | 0 (0%) | 14 (13%) |
Patellar dislocation (HP:0002999) | 8 (15%) | 2 (5%) | 1 (7%) | 11 (10%) |
Fetal clinical findings | ||||
Hydrops fetalis (HP:0001789) | 4 (7%) | 0 (0%) | 0 (0%) | 4 (4%) |
Increased nuchal translucency (HP:0010880) | 4 (7%) | 0 (0%) | 0 (0%) | 4 (4%) |
Polyhydramnios (HP:0001561) | 3 (6%) | 0 (0%) | 0 (0%) | 3 (3%) |
Radiological features | ||||
Osteoporosis/Osteopenia (HP:0000939/HP:0000938) | 9 (17%) | 17 (44%) | 2 (14%) | 28 (26%) |
Pelvis and hips | ||||
Prominent lesser trochanter (HP:6000816) (‘Swedish key’/‘monkey wrench’ appearance) | 50 (93%) | 35 (90%) | 14 (100%) | 99 (93%) |
Flat acetabular roof (HP:0003180) | 19 (35%) | 10 (26%) | 2 (14%) | 31 (29%) |
Short femoral neck (HP:0100864) | 4 (7%) | 11 (28%) | 2 (14%) | 17 (16%) |
Elevated greater trochanter | 3 (6%) | 0 (0%) | 9 (64%) | 12 (11%) |
Hip joint space narrowing | 0 (0%) | 0 (0%) | 12 (86%) | 12 (11%) |
Beaking of femur neck/metaphysis | 8 (15%) | 2 (5%) | 1 (7%) | 11 (10%) |
Coxa vara (HP:0002812) | 3 (6%) | 2 (5%) | 4 (29%) | 9 (8%) |
Flared iliac wing (HP:0002869) | 7 (13%) | 1 (3%) | 1 (7%) | 9 (8%) |
Coxa valga (HP:0002673) | 1 (2%) | 1 (3%) | 5 (36%) | 7 (7%) |
Broad femoral neck (HP:0006429) | 2 (4%) | 3 (8%) | 1 (7%) | 6 (6%) |
Hands | ||||
Advanced carpal bone age (HP:0004233) | 39 (72%) | 33 (85%) | 12 (86%) | 84 (79%) |
Accessory ossification proximal phalanx (between the metacarpal and proximal phalanx), 2nd digit (index) | 32 (59%) | 0 (0%) | 0 (0%) | 32 (30%) |
Short metacarpals (no other info) (HP:0010049) | 8 (15%) | 10 (26%) | 8 (57%) | 26 (24%) |
Triangular epiphyses of the phalanges of the hand (HP:0010238) (Delta phalanx/delta-like phalanx) | 20 (37%) | 0 (0%) | 0 (0%) | 20 (19%) |
Bifid distal phalanx of the thumb (HP:0009611) | 14 (26%) | 0 (0%) | 0 (0%) | 14 (13%) |
Short 1st metacarpals (HP:0010034) | 7 (13%) | 1 (3%) | 6 (43%) | 14 (13%) |
Short distal phalanx of the finger (HP:0009882) | 0 (0%) | 1 (3%) | 12 (86%) | 13 (12%) |
Radial deviation of the 2nd finger (HP:0009467) | 11 (20%) | 0 (0%) | 0 (0%) | 11 (10%) |
Premature fusion of phalangeal epiphyses (HP:0006140) | 0 (0%) | 1 (3%) | 8 (57%) | 9 (8%) |
Deviation of fingers (HP:0004097) | 8 (15%) | 0 (0%) | 0 (0%) | 8 (7%) |
Narrowing/fusion of the intercarpal space (HP:0009702) | 1 (2%) | 0 (0%) | 7 (50%) | 8 (7%) |
Shortening of all metacarpals (HP:0005720) | 0 (0%) | 3 (8%) | 4 (29%) | 7 (7%) |
Short phalanges (HP:0009803) | 0 (0%) | 7 (18%) | 0 (0%) | 7 (7%) |
Elongated proximal phalanges | 0 (0%) | 0 (0%) | 6 (43%) | 6 (6%) |
Elongated middle phalanges | 0 (0%) | 0 (0%) | 6 (43%) | 6 (6%) |
Metacarpophalangeal (mp) joint dislocation | 6 (11%) | 0 (0%) | 0 (0%) | 6 (6%) |
Accessory ossification proximal phalanx, 3rd digit | 5 (9%) | 0 (0%) | 0 (0%) | 5 (5%) |
Feet | ||||
Advanced tarsal ossification (HP:0008108) | 11 (20%) | 12 (31%) | 3 (21%) | 26 (24%) |
Short metatarsal (HP:0010743) | 8 (15%) | 2 (5%) | 8 (57%) | 18 (17%) |
Extraneous ossification centers | 8 (15%) | 2 (5%) | 0 (0%) | 10 (9%) |
Triangular epiphyses of the toes (HP:0010172) (Delta phalanx/delta-like phalanx) | 9 (17%) | 0 (0%) | 0 (0%) | 9 (8%) |
Hallux valgus (HP:0001822) | 8 (15%) | 1 (3%) | 0 (0%) | 9 (8%) |
Distal fibular overgrowth | 7 (13%) | 0 (0%) | 1 (7%) | 8 (7%) |
Long bones | ||||
Metaphyseal widening (HP:0003016) | 10 (19%) | 18 (46%) | 7 (50%) | 35 (33%) |
Shortening of tubular bones | 11 (20%) | 18 (46%) | 0 (0%) | 29 (27%) |
Flared metaphysis (HP:0003015) | 14 (26%) | 6 (15%) | 0 (0%) | 20 (19%) |
Proximal fibular overgrowth (HP:0005067) | 8 (15%) | 0 (0%) | 8 (57%) | 16 (15%) |
Abnormal epiphysis morphology (HP:0005930) | 1 (2%) | 7 (18%) | 3 (21%) | 11 (10%) |
Flat metaphyses | 1 (2%) | 1 (3%) | 7 (50%) | 9 (8%) |
Flattened epiphysis (HP:0003071) | 1 (2%) | 5 (13%) | 3 (21%) | 9 (8%) |
Enlarged metaphyses (HP:0003051) | 2 (4%) | 4 (10%) | 1 (7%) | 7 (7%) |
Short diaphyses (HP:0000941) | 7 (13%) | 0 (0%) | 0 (0%) | 7 (7%) |
Bowing of the long bones (HP:0006487) | 6 (11%) | 1 (3%) | 0 (0%) | 7 (7%) |
Spine and thorax | ||||
Coronal cleft vertebrae (HP:0003417) | 15 (28%) | 7 (18%) | 1 (7%) | 23 (21%) |
Intervertebral space narrowing (HP:0002945) | 3 (6%) | 0 (0%) | 11 (79%) | 14 (13%) |
Platyspondyly (HP:0000926) | 3 (6%) | 9 (23%) | 1 (7%) | 13 (12%) |
Abnormally ossified vertebrae (HP:0100569) | 5 (9%) | 7 (18%) | 0 (0%) | 12 (11%) |
Abnormality of the vertebral endplates (HP:0005106) | 0 (0%) | 2 (5%) | 8 (57%) | 10 (9%) |
Abnormality of the cervical spine (HP:0003319) | 8 (15%) | 1 (3%) | 0 (0%) | 9 (8%) |
Premature degenerative spondylosis | 0 (0%) | 0 (0%) | 9 (64%) | 9 (8%) |
Increased vertebral height (HP:0004570) | 8 (15%) | 0 (0%) | 0 (0%) | 8 (7%) |
Reference | Ethicity | Parental Consanguinity (Y–Yes, N–No) | Gene | Location | Nucleotide Change † | Amino Acid Change/Effect on Protein | Type of Mutation | Type |
---|---|---|---|---|---|---|---|---|
[26] | Sri Lankan | Y | CANT1 | 50 UTR and Ex1 | del 2703 bp (hom ‡) | nonsense | DBQD1 | |
Turkish | Y | CANT1 | Ex3 | c.734 delC (hom) | p.Pro245ArgfsTer3 | nonsense | DBQD1 | |
Turkish | Y | CANT1 | Ex4 | c.898C>T (hom) | p.Arg300Cys | missense | DBQD1 | |
Turkish | Y | CANT1 | Ex4 | c.898C>T (hom) | p.Arg300Cys | missense | DBQD1 | |
Iranian | Y | CANT1 | Ex4 | c.898C>T (hom) | p.Arg300Cys | missense | DBQD1 | |
French | Y | CANT1 | Ex4 | c.899G>A (hom) | p.Arg300His | missense | DBQD1 | |
Emirati | Y | CANT1 | Ex4 | c.899G>A (hom) | p.Arg300His | missense | DBQD1 | |
Moroccan | Y | CANT1 | Ex4 | c.907-911insGCGCC (hom) | p.Ser303AlafsTer20 | frameshift | DBQD1 | |
Brazilian | Y | CANT1 | Ex2 | c.374G>A (hom) | p.Trp125Ter | nonsense | DBQD1 | |
Brazilian | Y | CANT1 | Ex4 | c.896C>T (hom) | p.Pro299Leu | missense | DBQD1 | |
[27] | Saudi | Y | CANT1 | Ex4 | NM_001159772.1:c.893-894insGCCGC (hom) | p.325fsTer | frameshift | DBQD1 |
[28] | Korean | N | CANT1 | In2/Ex3 | IVS2–9G>A/c.676G>A (chet §) | p.Gly279ValfsTer8/p.Val226Met | (mutation at splice acceptor site)/missense | DDKV |
Korean | N | DDKV | ||||||
Japanese | Y | CANT1 | Ex3 | c.676G>A (hom) | p.Val226Met | missense | DDKV | |
Japanese | Y | DDKV | ||||||
Japanese | N | CANT1 | Ex3/Ex4 | c.676G>A/c.861C>A (chet) | p.Val226Met/p.Cys287Ter | missense/nonsense | DDKV | |
Korean | N | CANT1 | Ex3/Ex4 | c.676G>A/c.1079C>A (chet) | p.Val226Met/p.Ala360Asp | missense/missense | DDKV | |
Turkish | N | DDKV | ||||||
[29] | Australian | N | CANT1 | Ex2 | c.228_229insC/c.617T>C (chet) | p.Trp77LeufsTer13/p.Leu224Pro | nonsense/missense | DBQD1 |
Turkish | Y | CANT1 | Ex2 | c.375G>C (hom) | p.Trp125Cys | missense | DBQD2 | |
Turkish | Y | DBQD2 | ||||||
Japanese | N | CANT1 | c.676G>A/c.494T>C (chet) | p.Val226Met/p.Met165Thr | missense/missense | DDKV | ||
[30] | German | Y | CANT1 | Ex2 | c.336C>A (hom) | p.Asp112Glu | missense | DBQD1 |
German | N | CANT1 | Ex2 | c.277_278delCT/c.228_229insC (chet) | p.Leu93ValfsTer89/p.Trp77LeufsTer13 | frameshift/frameshift | DBQD1 | |
German | N | CANT1 | Ex2 | c.228_229insC (hom) | p.Trp77LeufsTer13 | frameshift | DBQD1 | |
[31] | Israeli | Y | CANT1 | Ex4 | c.899G>A (hom) | p.Arg300His | missense | DBQD1 |
Moroccan | Y | CANT1 | Ex4 | c.1121T>A (hom) | p.Ile374Asn | missense | DBQD1 | |
Dutch (Surinamese Hindustan descent) | N | CANT1 | Ex2 | c.100delinsTT/c.358delC (chet) | p.Ala34PhefsTer56/p.Gln120LysfsTer10 | frameshift/frameshift | DBQD1 | |
Turkish | Y | CANT1 | Ex2 | c.531_532del>T (hom) | p.Tyr178LeufsTer4 | frameshift | DBQD1 | |
Yemeni | Y | CANT1 | Ex2 | c.531_532del>T (hom) | p.Tyr178LeufsTer4 | frameshift | DBQD1 | |
Bangladeshi | N | CANT1 | Ex2 | c.277_278delCT/c.100delinsTT (chet) | p.Leu93ValfsTer89/p.Ala34PhefsTer56 | frameshift/frameshift | DBQD1 | |
Turkish | Y | CANT1 | Ex4 | c.909C>G (hom) | p.Ser303Arg | missense | DDKV | |
Turkish | Y | CANT1 | In1 | c.–286+1G>A (hom) | intronic splice site mutation | DBQD 2 | ||
Syrian | Y | CHST3 | NM_004273.5:c.776T>C (hom) | p.Leu259Pro | missense | |||
[32] | Tunisian | Y | XYLT1 | Ex9 | c.1792C>T (hom) | p.Arg598Cys | missense | DBQD2 |
Tunisian | Y | XYLT1 | Ex9 | c.1792C>T (hom) | p.Arg598Cys | missense | DBQD2 | |
Mauritian | Y | XYLT1 | Ex3 | c.439C>T (hom) | p.Arg147Ter | nonsense | DBQD2 | |
Belgian | Y | XYLT1 | Ex1 | c.276dupG (hom) | p.Pro93AlafsTer69 | frameshift | DBQD2 | |
Turkish | Y | XYLT1 | In7 | c.1588–3C>T (hom) | splice site mutation | DBQD2 | ||
Turkish | Y | XYLT1 | In5 | c.1290–2A>C (hom) | splice site mutation | DBQD2 | ||
Turkish | Y | XYLT1 | In5 | c.1290–2A>C (hom) | splice site mutation | DBQD2 | ||
[33] | Japanese | N | CANT1 | Ex3 | c.805delC (hom) | p.Leu269CysfsTer54 | frameshift | DBQD1 |
[34] | Indian | Y | CANT1 | Ex2 | c.467C>T (hom) | p.Ser156Phe | missense | DDKV |
Indian | Y | CANT1 | Ex2 | c.467C>T (hom) | p.Ser156Phe | missense | DDKV | |
Indian | Y | CANT1 | Ex2 | c.467C>T (hom) | p.Ser156Phe | missense | DDKV | |
[35] | Polish | N | XYLT1 | c.595C>T/c.1651C>T (chet) | p.Gln199Ter/p.Arg551Cys | nonsense/missense | DBQD2 | |
[36] | Brazilian | Y | XYLT1 | Ex8 | c.1651C > T (hom) | p.Arg551Cys | missense | DBQD2 |
[37] | Dutch | N | XYLT1 | Whole gene/In7-Ex8 | 16p13 del (3.3 Mb)/c.1588-10_1595del (chet) | DBQD2 | ||
[38] | Emirati | Y | XYLT1 | Ex10 | c.2169dupA (hom) | p.Val724SerfsTer10 | frameshift | DBQD2 |
[39] | Turkish | Y | XYLT1 | Ex9 | c.1792delC (hom) | p.Arg598AlafsTer7 | nonsense | DBQD2 |
Turkish | Y | XYLT1 | Ex9 | c.1792delC (hom) | p.Arg598AlafsTer7 | nonsense | DBQD2 | |
Turkish | N | XYLT1 | In5 | c.1290-2A>C (hom) | splice site mutation | DBQD2 | ||
[40] | Pakistani | Y | CANT1 | Ex3 | c.643G>T (hom) | p.Glu215Term | nonsense | DBQD1 |
[41] | Chinese | Y | CANT1 | In3 | NM_138793:c.836-9G>A (hom) | p.Gly279ValfsTer8 | DBQD1 | |
[42] | Chinese | CANT1 | c.594G>A/c.734C>T (chet) | p.Trp198Ter/p.Pro245Leu | nonsense/missense | DBQD1 | ||
Chinese | CANT1 | c.594G>A/c.734C>T (chet) | p.Trp198Ter/p.Pro245Leu | nonsense/missense | DBQD1 | |||
Chinese | CANT1 | c.594G>A/c.734C>T (chet) | p.Trp198Ter/p.Pro245Leu | nonsense/missense | DBQD1 | |||
[43] | Indian | N | CANT1 | c.467C>T (hom) | p.Ser156Phe | missense | DDKV | |
[44] | French | N | CANT1 | c.340G > A/c.277_278del (chet) | p.Asp114Asn/p.leu93ValfsTer89 | missense/frameshift | DBQD1 | |
[45] | Turkish | N | CANT1 | c.375 G>C (hom) | p. Trp125Cys | missense | DDKV | |
[46] | Egyptian | Y | CANT1 | Ex2 | NM_001159772.1:c.277_278delCT (hom) | p.Leu93ValfsTer89 | frameshift | DBQD1 |
Egyptian | Y | CANT1 | Ex4 | NM_001159772.1:c.898C>T (hom) | p.Arg300Cys | missense | DBQD1 | |
[47] | Iranian | N | XYLT1 | NM_022166.4:c.742G>A/c.1537 C>A (chet) | Glu248Lys/Leu513Met | missense/missense | DBQD2 | |
[48] | Indian | Y | CANT1 | c.896C>T (hom) | p.Pro299Leu | missense | DBQD1 | |
Indian | Y | CANT1 | c.906_907insGCGCC (hom) | p.Ser303AlafsTer20 | frameshift | DBQD1 |
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Piwar, H.; Ordak, M.; Bujalska-Zadrozny, M. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports. Int. J. Mol. Sci. 2024, 25, 9700. https://doi.org/10.3390/ijms25179700
Piwar H, Ordak M, Bujalska-Zadrozny M. Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports. International Journal of Molecular Sciences. 2024; 25(17):9700. https://doi.org/10.3390/ijms25179700
Chicago/Turabian StylePiwar, Hubert, Michal Ordak, and Magdalena Bujalska-Zadrozny. 2024. "Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports" International Journal of Molecular Sciences 25, no. 17: 9700. https://doi.org/10.3390/ijms25179700