Table 1.

Phenotypic Characteristics of Individuals with PRDM5 Mutations from Families BCS-001 and BCS-002

	BCS-001									BCS-002
	IV:4	IV:6	IV:8	IV:9	IV:7	V:2	V:3	V:5	V:6	IV:6	V:1	V:4	V:5	IV:3
Homozygous/heterozygous	hom	hom	hom	hom	het	het	het	het	het	hom	hom	hom	hom	het
Corneal rupture	+	+	+	+
myopia	+	+	+	+	+						+	+	+
Blue sclera	+	+	+	+	+	+	+	+	+	+	+	+	+
Keratoconus	+	+	+	+	+						+
Keratoglobus	+	+	+	+
Megalocornea
Poor healing/abnormal scarring											+
Soft skin/easy bruising	+	+	+	+
Treatment for DDH	+										+	+
Femoral epiphyseal changes		+	+	+
Scoliosis	+
Small joint hypermobility	+	+	+	+	+	+	+	+	+	+	+	+	+
Fractures										+		+	+
Myalgia	+	+								+
Abnormal gait	+	+	+	+						+		+
Deafness	+	+	+	+						+	+	+	+
Hypercompliant TMs	+	+	+	+						+	+	+
Other features	P									LD	H	LD	LD CLP PKU
CCT <400 μm	+	+	+	+						+	+	+	+
CCT 400–550 μm					+	+	+	+	+					+

Affected, homozygous, individuals in each family are indicated. + indicates present; and empty box indicates not present. N/A indicates data not available.

The following abbreviations are used: DDH, developmental dysplasia of the hip; TM, tympanic membrane; CCT, central corneal thickness. P, primiparous cervical incompetence; LD, learning disability; H, hernia (inguinal, umbilical or epigastric); CLP, cleft lip and palate; PKU, phenylketonuria.