Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Table 1

List of candidate genes for autosomal recessive congenital BBS.

OMIM ID	Gene	Function	Cytogenetic position
209900	BBS1	BBSome protein	11q13
615981	BBS2	BBSome protein	16q21
600151	BBS3/ARL6	GTPase	3p12-p13
615982	BBS4	BBSome protein	15q22.3q23
615983	BBS5	BBSome protein	2q31
604896	BBS6/MKKS	Part of chaperonin complex	20p12
615984	BBS7	BBSome protein	4q27
608132	BBS8/TTC8	BBSome protein	14q32.1
607968	BBS9/B1	BBSome protein	7p14
615987	BBS10	Part of chaperonin complex	12q21.2
602290	BBS11/TRIM32	E3 ubiquitin ligase	9q31-q34.1
615989	BBS12	Part of chaperonin complex	4q27
609883	BBS13 MKS1	Centriole migration	17q23
610142	BBS14/CEP290/NPHP6	Basal body: RPGR interaction	12q21.3
613580	BBS15/WDPCP	Basal body: localization cx of septins and ciliogenesis	2p15
613524	BBS16 SDCCAG8	Basal body: interacts with OFD1	1q43-q44
606568	BBS17/LZTFL1	BBSome associated	3p21.31
613605	BBS18/BBIP1	BBSome	10q25.2
615870	BBS19/IFT27	Non-BBSome	22q12.3
608040	BBS20/IFT74	Non-BBSome	9p21.2
614477	BBS21/C8ORF37	Non-BBSome	8q22.1