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2019 2
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Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.
Goyal S, Singh IR, Vanita V. Goyal S, et al. Clin Exp Ophthalmol. 2020 Apr;48(3):343-355. doi: 10.1111/ceo.13719. Epub 2020 Feb 3. Clin Exp Ophthalmol. 2020. PMID: 31989739
CONCLUSIONS: Present study is the second report of identifying a novel mutation in MKKS/BBS6 that is linked with arRP in association with polydactyly, however, with no other signs of BBS or MKKS. These findings further expand the mutation spectrum of MKKS …
CONCLUSIONS: Present study is the second report of identifying a novel mutation in MKKS/BBS6 that is linked with arRP in assoc …
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M. Gupta N, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):9-19. doi: 10.1002/ajmg.c.31970. Epub 2022 Apr 4. Am J Med Genet C Semin Med Genet. 2022. PMID: 35373910 Free PMC article. Review.
It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membrane protein composition. Less information is available for BBS6, BBS10, and BBS12, three proteins showing s …
It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a …
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M. Nawaz H, et al. Genes (Basel). 2023 May 19;14(5):1113. doi: 10.3390/genes14051113. Genes (Basel). 2023. PMID: 37239474 Free PMC article.
In the present study, 10 BBS Pakistani families were subjected to whole exome sequencing (WES), which revealed novel/recurrent gene variants, including a homozygous nonsense mutation (c.94C>T; p.Gln32Ter) in the IFT27 (NM_006860.5) gene in family A, a homozygous nonsense mutat …
In the present study, 10 BBS Pakistani families were subjected to whole exome sequencing (WES), which revealed novel/recurrent gene variants …
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M. Rao AR, et al. Genes (Basel). 2023 Feb 3;14(2):404. doi: 10.3390/genes14020404. Genes (Basel). 2023. PMID: 36833331 Free PMC article.
Whole-exome sequencing revealed 9 pathogenic variants in six genes associated with BBS in 12 families. The BBS6/MKS was the most common BBS causative gene identified in five families (5/12, 41.6%), with one novel (c.1226G>A, p.Gly409Glu) and two reported variants. c.774 …
Whole-exome sequencing revealed 9 pathogenic variants in six genes associated with BBS in 12 families. The BBS6/MKS was the most comm …
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N, Nozu K, Yamamura T, Horinouchi T, Nagano C, Ye MJ, Ishiko S, Aoto Y, Rossanti R, Hamada R, Okamoto N, Shima Y, Nakanishi K, Matsuo M, Iijima K, Morisada N. Sakakibara N, et al. J Hum Genet. 2022 Jul;67(7):427-440. doi: 10.1038/s10038-022-01020-5. Epub 2022 Feb 9. J Hum Genet. 2022. PMID: 35140360
Members of 60 families were diagnosed using NGS, and the mutations and the corresponding number of families are as follows: NPHP1 (24), NPHP3 (10), OFD1 (7), WDR35 (5), SDCCAG8 (4), BBS10 (3), TMEM67 (3), WDR19 (3), BBS1 (2), BBS2 (2), IFT122 (2), IFT140 (2), IQCB1 (2), MKKS …
Members of 60 families were diagnosed using NGS, and the mutations and the corresponding number of families are as follows: NPHP1 (24), NPHP …
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.
Ali A, Abdullah, Bilal M, Mis EK, Lakhani SA, Ahmad W, Ullah I. Ali A, et al. Mol Biol Rep. 2023 Dec;50(12):9963-9970. doi: 10.1007/s11033-023-08816-4. Epub 2023 Oct 28. Mol Biol Rep. 2023. PMID: 37897612
RESULTS: Analysis of the data revealed four variants, including a novel/unique inheritance pattern of compound heterozygous variants, p.(Ser40*) and p.(Thr259Leufs*21), in MKKS gene, novel homozygous variant, p.(Gly251Val)] in BBS7 gene and two previously reported p.(Thr25 …
RESULTS: Analysis of the data revealed four variants, including a novel/unique inheritance pattern of compound heterozygous variants, p.(Ser …
Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Beigi F, Del Pozo-Valero M, Martin-Merida I, Perea-Romero I, Manaviat MR, Ayuso C, Ghasemi N. Beigi F, et al. Exp Eye Res. 2021 Jun;207:108533. doi: 10.1016/j.exer.2021.108533. Epub 2021 Mar 17. Exp Eye Res. 2021. PMID: 33741323
MATERIALS AND METHODS: The proband of the family was examined by Next Generation Sequencing (NGS) using clinical exome and filtering by syndromic and non-syndromic genes associated with retinal dystrophies. RESULTS: Targeted NGS revealed two novel variants in the MKKS and …
MATERIALS AND METHODS: The proband of the family was examined by Next Generation Sequencing (NGS) using clinical exome and filtering by synd …
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.
Sloboda N, Lambert L, Ciorna V, Bruel AL, Tran Mau-Them F, Gomola V, Lemelle JL, Klein O, Camoin-Schweitzer MC, Magnavacca M, Legagneur C, Ezsto ML, Bonnet C, Philippe C, Leheup B. Sloboda N, et al. Mol Genet Genomic Med. 2022 May;10(5):e1869. doi: 10.1002/mgg3.1869. Epub 2022 Mar 23. Mol Genet Genomic Med. 2022. PMID: 35318824 Free PMC article.
CONCLUSION: Complex genital malformations are only reported in female BBS6 patients yet, and genital abnormalities and anal imperforation are not reported in male BBS4 patients to date. ...
CONCLUSION: Complex genital malformations are only reported in female BBS6 patients yet, and genital abnormalities and anal imperfora …
Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.
Castro-Sánchez S, Suarez-Bregua P, Novas R, Álvarez-Satta M, Badano JL, Rotllant J, Valverde D. Castro-Sánchez S, et al. Sci Rep. 2019 Sep 10;9(1):12936. doi: 10.1038/s41598-019-49217-7. Sci Rep. 2019. PMID: 31506453 Free PMC article.
We show that target knockdown (KD) of known BBS (BBS1, BB5 or BBS6) loci leads to developmental defects commonly associated with ciliopathies, as previously described. ...
We show that target knockdown (KD) of known BBS (BBS1, BB5 or BBS6) loci leads to developmental defects commonly associated with cili …
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey.
Gumus E, Tuncez E, Oz O, Saka Guvenc M. Gumus E, et al. Ann Hum Genet. 2021 Jan;85(1):27-36. doi: 10.1111/ahg.12401. Epub 2020 Jul 20. Ann Hum Genet. 2021. PMID: 32686083
RESULTS: Homozygous variants, four of which are unreported, in BBS-related genes (BBS5 [c.682-2A > G], MKKS [c.775del], BBS7 [c.849+1G > T], BBS9 [c.965G > A], BBS10 [c.145C > T], LZTFL1[c.384G > A]) are detected for all the seven individuals included in the …
RESULTS: Homozygous variants, four of which are unreported, in BBS-related genes (BBS5 [c.682-2A > G], MKKS [c.775del], BBS7 [c.84 …
12 results