IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Table 1 Phenotype characteristics of OI type V patients

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Age	15	4	34	7	5
Sex	m	m	f	f	f
Country	Ukraine	Ukraine	Ukraine	Ukraine	Vietnam
Phenotype	Severe	Mild	Moderate	Moderate	Mild
Mimicking classic OI type	V	I	IV	IV	I
OI history in the family	No	Yes	Yes	No	No
Hyperplastic callus	Yes, extreme	Yes	Yes	No	Yes
Interosseous membrane calcification	Yes	Yes	Yes (fibula-tibia)	No	No
Radial head dislocation	Yes	Yes	Yes	No	Yes
Metaphyseal radiodense band	NA	Yes	Yes	No	Yes
Hearing loss	Yes, age 14	No	No	No	No
Dentinogenesis imperfecta	No, teeth brittle	No	No	No
Sclera hue	Grayish	Bluish	Bluish	Grayish	Bluish
Number of fractures	8	4	26	16	5
Number of fractures per year	0.5	1	0.8	2.3	1
Time of the first fracture	1.3	7 months	at birth	3 months	2
First fractured bone	Femur	Left femur	Elbow, femur	Scapula	Lower leg
The most frequently fractured bone	Femur	Femur	Femur	Legs	Lower leg
Pyramidal/bell-shaped chest	Yes, severe	No	Yes	Yes	No
Scoliosis	Yes	No	Yes	Yes	No
Upper limb long bone deformity	Yes, mild	Yes, mild	Yes	No	Yes, mild
Lower limb long bone deformity	Yes	Yes, mild	Yes	Yes, mild	Yes, mild
Mobility	Immobile, lying	Walking	Walking (did not walk at age 9–14)	Walking	Walking
Height (Z score)	− 3.93	0.66	− 2.70	− 2.83	− 1.22
Birthweight and length	52/3450	51/2500	52/3300	50/2800	NA/2800
Joint laxity	No	Yes	Yes	No	NA

ISSN: 1479-7364