Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
|
| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2022/6110775 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832555167166234624 |
|---|---|
| author | Roghayeh Dehghan Mahdiyeh Behnam Mansoor Salehi Roya Kelishadi |
| author_facet | Roghayeh Dehghan Mahdiyeh Behnam Mansoor Salehi Roya Kelishadi |
| author_sort | Roghayeh Dehghan |
| collection | DOAJ |
| description | Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). In the other child, no mutations were detected in known genes for BBS. However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alström syndrome. All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome. |
| format | Article |
| id | doaj-art-13fa20d6725d435e9ce471b97a878fce |
| institution | Kabale University |
| issn | 2090-6730 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Ophthalmological Medicine |
| spelling | doaj-art-13fa20d6725d435e9ce471b97a878fce2025-02-03T05:49:22ZengWileyCase Reports in Ophthalmological Medicine2090-67302022-01-01202210.1155/2022/6110775Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl SyndromeRoghayeh Dehghan0Mahdiyeh Behnam1Mansoor Salehi2Roya Kelishadi3Department of Genetics and Molecular BiologyCellularDepartment of Genetics and Molecular BiologyDepartment of PediatricsBardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). In the other child, no mutations were detected in known genes for BBS. However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alström syndrome. All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome.http://dx.doi.org/10.1155/2022/6110775 |
| spellingShingle | Roghayeh Dehghan Mahdiyeh Behnam Mansoor Salehi Roya Kelishadi Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome Case Reports in Ophthalmological Medicine |
| title | Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome |
| title_full | Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome |
| title_fullStr | Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome |
| title_full_unstemmed | Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome |
| title_short | Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome |
| title_sort | novel mutations in the mkks bbs7 and alms1 genes in iranian children with clinically suspected bardet biedl syndrome |
| url | http://dx.doi.org/10.1155/2022/6110775 |
| work_keys_str_mv | AT roghayehdehghan novelmutationsinthemkksbbs7andalms1genesiniranianchildrenwithclinicallysuspectedbardetbiedlsyndrome AT mahdiyehbehnam novelmutationsinthemkksbbs7andalms1genesiniranianchildrenwithclinicallysuspectedbardetbiedlsyndrome AT mansoorsalehi novelmutationsinthemkksbbs7andalms1genesiniranianchildrenwithclinicallysuspectedbardetbiedlsyndrome AT royakelishadi novelmutationsinthemkksbbs7andalms1genesiniranianchildrenwithclinicallysuspectedbardetbiedlsyndrome |