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Table 1 Summary of clinical features in all reported patients with biallelic B3GAT3 mutations

From: The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

 

Previously reported patients

New patients

Totalc

c.830G > A [32, 38]

c.419C > T [35]

c.1A > G + c.671 T > A [36]

c.245C > T [33]

c.667G > A [37, 39]

Het. c.888 + 262 T > G [34]

1. c.667G > A

2. c.416C > T

 

N° of patients

6

8

1

1

7

1

1

1

26

Short stature

6/6 (>p3)

8/8 (>P3)

0/1

1/1

1/4 (NR in 3)

1/1

Yes

Yes

19/23 (83%)

Skeletal dysplasiaa

6/6

8/8

1/1

1/1

7/7

1/1

Yes

Yes

26/26 (100%)

Joint hypermobility

6/6

0/8

1/1

NR

0/1 (NR in 6)

1/1

Yes

Yes

10/19 (53%)

Joint dislocations

6/6 (elbow, shoulders, radioulnar, hip)

8/8 (elbow, shoulder)

1/1 (left hip)

NR

3/7

0/1

No

Yes

18/25 (72%)

Fractures

NR

NR

1/1 (multiple fractures of femur and tibia)

1/1

5/6

0/1

Yes

No

8/12 (67%)

Joint contractures

5/6 (elbow)

4/8 (elbow)

NR

NR

7/7

NR

Yes

No

11/16 (69%)

Facial dysmorphologyb

6/6

8/8

1/1

NR

6/7

1/1

Yes

Yes

25/25 (100%)

Cardiovascular involvement

6/6 (bicuspid aortic valve, aortic root dilatation, mitral valve prolapse, ASD, VSD)

0/3 (Not investigated in 5)

1/1 (PFO, bicuspid aortic valve, diltation of aortic root and ascendig aorta)

NR

4/7 (ASD, VSD, patent ductus arteriosus)

1/1 (VSD, pulmonary stenosis)

No

NI

12/20 (60%)

Intellectual disability

1/6

0/5

1/1

NR

1 (NR in 6)

NR

–

No

2/14 (14%)

Ocular involvement

1/1 (hyperopia, esotropia, amblyopia)

NR

1/1 (hyperopia, astigmatism, amblyopia and left ptosis)

NR

1 with bilateral glaucoma (NR in 6)

NR

Yes (Corneal clouding)

No

4

Blue sclerae

NR

NR

1/1

NR

1 (NR in 6)

NR

Yes

Yes

4

Spatulate phalanges

6/6

8/8

NR

NR

1 (NR in 6)

NR

Yes

Yes

16/17 (94%)

Hyperextensible skin

0/1 (NR in 5)

NR

1/1

NR

0/7

NR

No

No

1

Cutis laxa

NR

NR

NR

1/1

NR

NR

Yes

No

2

Hearing loss

NR

NR

NR

NR

1 with bilateral conductive (NR in 6)

1/1 (sensorineural)

NI

No

2

Aditional features

Excessive wrinkling of the skin in 1

 

Restrictive lung disease due to scoliosis + macrocepahly + hypoglycemia + hypothyroidism

Multiple bony chondroma

6 patients died before the age of 1 year

Posterior cloaca + ketotic hypoglycemia + GH deficiency

Died before the age of 1 year

  
  1. NR Not Reported, NI Not Investigated
  2. a Skeletal dysplasia including shortening and bowing of long bones, severe (kypho)scoliosis, foot deformity and radioulnar synostosis
  3. b Facial dysmorhpology including abnormalities in cephalic index (brachycephaly and dolichocephaly), frontal bossing, hypertolerism, prominent eyes, downslanting palpebral fissures, midfacial hypoplasia, depressed nasal bridges, microstomia and short neck
  4. c Total based on the reported frequency