Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations

Table 1

Types of osteogenesis imperfecta (adapted from [18]).

Type	Inheritance**	Clinical	Incidence^++	Mutations
I	AD	Mild, blue sclerae fractures with little or no deformity hearing loss, DI	60%	Type I collagen; COL1A1, COL1A2
II	AD, AR	Lethal, pulmonary insufficiency, beaded ribs, rhizomelic hearing loss	10%	Type I collagen; COL1A1, COL1A2
III	AD, AR	Progressive deforming intrauterine fractures, deformed limbs, scoliosis white or blue sclerae hearing loss, DI	10%	Type I collagen; COL1A1, COL1A2
IV	AD	Moderately severe, limb deformity, sclerae blue early and lighten with age scoliosis	15%	Type I collagen; COL1A1, COL1A2
V	AD	Variable phenotype like IV hyperplastic callus, dislocated radial head calcified interosseous membrane	5%	Unknown
VI	unknown	More fractures than IV mineralization defect on biopsy, vertebral fractures, no DI	Unknown	Type I collagen; SERPINF1 (chaperone protein)
VII	AR	First nations family, Quebec	^++	CRTAP, LEPRE1, PPIB (prolyl-3 hydroxylation)
		congenital fractures white sclerae, severe rhizomelia
VIII	AR	Severe or lethal similar to OI type II (Sillence)	^++	CRTAP, LEPRE1 SERPINH1

**AD = autosomal dominant.
**AR = autosomal recessive.
⁺⁺: the incidence of OI types I–IV is reasonably established. However, for the less common types, OI types VI, VII, and VIII, the incidence is not clearly defined. However, it is estimated that the recessively inherited forms (VII and VIII) constitute approximately 3–5% of the total OI population.