Table 1.

Junctional protein gene mutation and BBB dysfunction.

Gene	Locus	Mutation	Type of inheritance	Protein	Phenotype
MPDZ	9p23	nonsense mutation	Autosomal recessive	Multiple PDZ domain	Hydrocephalus, aqueductal stenosis, abnormality of corpus callosum, hypoplasia/aplasia corticospinal tracts microvascular permeability (?)
JAM-C	11q25	G-to-T transversion (747+1G-T)	Autosomal recessive	JAM-C	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, BBB permeability
OCLN	15q13.2	171_193del22 F219S	Autosomal recessive	occludin	Band-like calcification with simplified gyration and polymicrogyria Microvascular permeability (?)
CCM1(KRIT1)	7q21.2	42 distinct mutations	Autosomal dominant	KRIT1	Cerebral cavernous malformations-1 multiple cerebral capillary malformations in brain and retina, vascular permeability, hemorrhage
CCM2 (MGC4607)	7p13	8 different mutations	Autosomal dominant	malcavernin	Cerebral cavernous malformations-2
PDCD10 (CCM3)	3q26.1	6 distinct mutations	Autosomal dominant?	PDCD10	Cerebral cavernous malformations-3, capillary malformations in brain and spinal cord
SRF/MRTF				Claudins, ZO-1, VEcadherin, α-actinin, collagen IV	Intracerebral hemorrhagic stroke, brain small vessels disease, BBB permeability
GJA1	6q22.31	nonsense mutation	Autosomal dominant	Connexin 43	oculodentodigital dysplasia (ODDD) with neuropathies