Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Table 2

Clinical and genetic manifestation of microcephaly patients.

Family individual ID	Gene	Mutation	Affected members	Age on onset (years)	Head circumference (cm)	Intellectual disability	Epilepsy	Hearing loss	Ophthalmological anomalies	Skeletal anomalies	Neurological defect
MC-1	MCPH1	c.1254delT; p. Asp419fs	2
IV-1				8	44	+	—	+	—	—	+
IV-2				15	45	+	—	+	—	—	+
MC-2	CENPJ	c.18delC; p. Ser7fs	3
IV-3				23	37	+	+	+	—
IV-4				17	38	+	+	+	—	—	+
IV-5				14	37	+	+	+	—	—	+
MC-3	CASK	c.1289G>A; p. Arg430His	2
IV-2				14	37	+	+	+	—	—	+
IV-4				10	43	+	+	+	—	—	+