Table 1.

Clinical and genetic characteristics of family members with COL1A2 c.3197G>T variant

Subject	II:1	II:2	III:1	IV:1
Sex	Male	Male	Male	Female
Zygosity	Heterozygous	Heterozygous	Heterozygous	Heterozygous
Ethnic background	Han Chinese	Han Chinese	Han Chinese	Han Chinese
Age (years)	66	62	35	11
Height (centimeter)	160	155	169	146
Weight (kilogram)	55.6	58.5	82.4	50.0
Fractures	Multiple	Multiple	Multiple	Multiple
Sclerae	Pale blue	Pale blue	Pale blue	Blue
Hearing loss	No	No	No	No
Dentinogenesis imperfecta	Yes	Yes	Yes	Yes
Bone deformity	Unknown	Unknown	Unknown	Moderate
Stature	Normal	Normal	Normal	Normal
Clinical presentation severity	Moderate	Moderate	Moderate	Severe

COL1A2, the collagen type I alpha 2 chain gene.