The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Table 2 Mutated genes in 17 patients with COMA

Mutated gene	Clinical condition	Inheritance	OMIM #	Number of patients in this cohort
KIAA0586	JBTS23	AR	616490	6
SUFU	forme fruste of JBTS	AD	n.a.	3
NPHP1	JBTS4	AR	609583	2
ATM	Variant A-T	AR	208900	1
CC2D2A	JBTS9	AR	612285	1
LAMA1	PTBHS	AR	615960	1
MKS1	JBTS28	AR	617121	1
TMEM67	JBTS6	AR	610688	1
TUBA1A	TUBA1A-associated brain malformation	AD	611603	1

AD autosomal dominant, AR autosomal recessive, A-T ataxia-telangiectasia, JBTS Joubert syndrome, PTBHS Poretti-Boltshauser syndrome

ISSN: 1750-1172