Table 2.

List of variants and phenotype reported in patients of BBS8

Family	Ethnic	Consanguineous	Gene	Nucleotide alteration(s)	Zygosity state	Alteration(s) in coding sequence	Rod-cone dystrophy	Polydactyly	Obesity	Hypogonadism	Renal anomalies	Mental retardation	Secondary signs	Reference
Family 1	Japanese	No	TTC8	226 C > T & 308_309insAT	comp. het	Q76X & T103fs	Yes	Yes	Yes	No	Yes	No	Hirschsprung disease, abnormal glucose tolerance, exotropia, hypertension	Present study
Family 2	Pakistan	Yes	TTC8	IVS10 + 2_4delTGC	hom	Splice site	Yes	Yes	Yes	Yes	NA	Speech impediment	Developmental delay, brachycephaly	Ansley et al.4
Family 2	Pakistan	Yes	TTC8	IVS10 + 2_4delTGC	hom	Splice site	Yes	Yes	Yes	Yes	NA	Speech impediment	Developmental delay, brachycephaly, Situs inversus	Ansley, et al.4
Family 2	Pakistan	Yes	TTC8	IVS10 + 2_4delTGC	hom	Splice site	Yes	Yes	Yes	Yes	NA	Speech impediment	Developmental delay, brachycephaly, hemophilia	Ansley, et al.4
Family 3	Saudi Arabian	NA	TTC8	187–188delEY	hom	6 bp Inframe delation	Yes	Yes	Yes	Yes	NA	Speech impediment	Developmental delay, brachycephaly	Ansley, et al.4
Family 3	Saudi Arabian	NA	TTC8	187–188delEY	hom	6 bp Inframe delation	Yes	Yes	Yes	Yes	NA	Speech impediment	Developmental delay, brachycephaly	Ansley, et al.4
Family 3	Saudi Arabian	NA	TTC8	187–188delEY	hom	6 bp Inframe delation	Yes	Yes	Yes	NA	NA	Speech impediment	Developmental delay, brachycephaly,deafness	Ansley, et al.4
Family 4	Saudi Arabian	NA	TTC8	187–188delEY	hom	6 bp Inframe delation	Yes	Yes	Yes	NA	NA	Speech impediment	Developmental delay, brachycephaly,hyposadias	Ansley, et al.4
Family 4	Saudi Arabian	NA	TTC8	187–188delEY	hom	6 bp Inframe delation	Yes	Yes	Yes	NA	NA	Speech impediment	Developmental delay, brachycephaly,asthma	Ansley, et al.4
Family 5	North African	Yes	TTC8	459 G > A	hom	Splice site	Yes	Yes	NA	NA	NA	Cognitive impairment	Micropenis	Stoetzel, et al.7
Family 5	North African	Yes	TTC8	459 G > A	hom	Splice site	Yes	Yes	NA	NA	Yes	NA	Hydrometrocolpos	Stoetzel, et al.7
Family 5	North African	Yes	TTC8	459 G > A	hom	Splice site	Yes	Yes	NA	NA	Yes	NA	NA	Stoetzel, et al.7
Family 6	Lebanese	Yes	TTC8	IVS6 + 1_G > A	hom	Splice site	NA	NA	NA	NA	NA	NA	NA	Stoetzel, et al.7
Family 7	Caucasian	No	TTC8	IVS6 + 1–2delGT	het	Splice site	NA	NA	NA	NA	NA	NA	NA	Stoetzel, et al.7
Family 8	Tunisian	NA	TTC8	459 + 1 G > A	hom	Pro101LeufsX12	NA	NA	NA	NA	NA	NA	NA	Smaoui, et al.10
Family 9	Tunisian	NA	TTC8	459 + 1 G > A	hom	Pro101LeufsX12	NA	NA	NA	NA	NA	NA	NA	Smaoui, et al.10
Family10*	Tunisian	NA	TTC8	355_356insGGTGGAAGGCCAGGCA	hom	Thr124ArgfsX43	NA	NA	NA	NA	NA	NA	NA	Smaoui, et al.10
Family 11	Turkey	Yes	TTC8	122 G > A	hom	W41X	Yes	Yes	Yes	Yes	No	NA	Yes but details unknown	Harville, et al.11
Family 12	NA	NA	TTC8	IVS2 + 1 G > A	hom	Splice site	Yes	Yes	Yes?	No	No	Yes	Asthma, nasal cephalocele	Janssen, et al.12
Family 13	Hispanic	NA	TTC8	485delG & 1000delA	comp. het	G162fsX4 & I334fsX1	Yes	Yes	Yes	Yes	Yes	Yes	Fatty liver, gall stones	Janssen, et al.12
Family 14	Tunisian	Yes	TTC8	329 G > A	hom	Splice site	NA	NA	NA	NA	NA	NA	NA	Redin, et al.13
Family 15	Tunisian	Yes	TTC8	459 + 1 G > A	hom	Splice site	Yes	Yes	Yes	Yes	Yes	NA	Dental anomalies, hypertension	M’hamdi O, et al.14
Family 16	Pakistan	Yes	TTC8	1347 G > C	hom	Gln449His	Yes	Yes	Yes	Yes	No	Congnitive impairment	Clinodactyly	Ullah, et al.15
Family 16	Pakistan	Yes	TTC8	1347 G > C	hom	Gln449His	Yes	Yes	Yes	Yes	NA	Congnitive impairment	Clinodactyly	Ullah, et al.15
Family 16	Pakistan	Yes	TTC8	1347 G > C	hom	Gln449His	Yes	Yes	Yes	NA	No	Congnitive impairment	NA	Ullah, et al.15