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Table 1 Clinical manifestations of patients with type II collagenopathies with homozygous mutations

From: A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

Family

1

2

3

4

5

Patient

1

2

3

4

5

6

7

Sex

Male

Male

Male

Male

Male

Female

Male

Age at onset

1.5 years

2 years

24 weeks (gestational age)

nd

nd

3 years

10 years

Age at diagnosis (genetic confirmation)

5 years

nd

4 years

24 years

22 years

7 years

10 years

Consanguinity

+

+

+

+

+

+

Ethnicity

Chinese

Indian

nd

Indian

Indian

Indian

Indian

Birth height (cm)/weight (kg)

51 (+ 0.33SD)/4 (+ 1.6SD)

49 (− 0.8SD)/3.1 (− 0.9SD)

38.5 (− 4.5SD)/2.7 (− 1.5SD)

nd

nd

nd

nd

Height (cm)/weight (kg) at last evaluative

105.8 (− 1.29)/24 (+ 1.87)

117.5 (− 4.8SD)/nd

68 (− 4SD)/9.5 (− 4.5)

97 (− 11)/nd

104 (− 10)/nd

127 (− 2)/20 (− 2.8)

111 (− 2.5)/17.5 (− 2)

Eyesight abnormality

+ (–6.5/–7.5D)

+ (–10D)

+ (+ 2D)

+ (+ 2.5D)

Hearing imapairment

+

Short limbs

+

+

+

+

Brachydactyly

+

+

nd

+

+

Motor delay

+

nd

+

nd

Short neck

+

+

+

Flat face

+

+

nd

+

+

Irregular vertebral endplate

+

+

+

+

+

+

Platyspondyly

+

+

+

+

+

+

+

Lumbar lordosis

nd

nd

+

+

+

+

Kyphosis

+

+

Scoliosis

+

+

+

Epiphyseal dysplasia

+

+

+

+

+

+

+

Metaphyseal enlargement

+

+

+

+

+

+

+

Joint pain/stiffness/laxity

+

nd

nd

+

+

+

+

Waddling gait

+

nd

+

+

Others

 

Pyloric stenosis, inguinal hernia, insulin resistance, Barrel shaped thorax

Pierre Robin sequence features (cleft palate, bifid uvula, retrognathia, glossoptosis)

 

Bilateral knee joint dislocation

  

Identified variant

c.3662C > T (p.Ser1221Phe)

c.1309C > T p. (Arg437Trp)

c.1373C > T p. (Pro458Leu)

c.4135C > T p. (Arg1379Cys)

c.4135C > T p. (Arg1379Cys)

c.3190C > T p. (Arg1133Cys)

c.3190C > T p. (Arg1133Cys)

Exon

51

21

22

53

53

47

47

Domain

C‐terminal

Triple helical domain

Triple helical domain

C‐terminal

C‐terminal

Triple helical domain

Triple helical domain

Reference

This study

Tham, E., et al

Barat-Houari, M., et al

Girisha, K. M. et al

  1. nd, no data