Literature DB >> 26557828

Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.

Evgeny N Suspitsin1, Anna P Sokolenko1, Lydia V Lyazina2, Elena V Preobrazhenskaya3, Alla Y Lepenchuk4, Evgeny N Imyanitov5.   

Abstract

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney abnormalities. At least 19 genes have been shown to be associated with BBS, and therefore, genetic testing is highly complicated. We used an Illumina MiSeq platform for whole exome sequencing analysis of a family with strong clinical features of BBS. A homozygous c.1967_1968delTAinsC (p.Leu656fsX673; RefSeq NM_176824.2) mutation in BBS7 was identified in both affected children, while their healthy sibling and the non-consanguineous parents were heterozygous for this allele. Genotyping of 2,832 DNA samples obtained from Russian blood donors revealed 2 additional heterozygous subjects (0.07%) with the c.1967_1968delTAinsC mutation. These findings may facilitate the genetic diagnosis for Slavic BBS patients.

Entities:  

Keywords:  BBS7 gene; Bardet-Biedl syndrome; Ciliopathy; Exome sequencing; Founder alleles

Year:  2015        PMID： 26557828      PMCID： PMC4574611          DOI： 10.1159/000371408

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  10 in total

1.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

Authors:  Sophie Scheidecker; Christelle Etard; Nathan W Pierce; Véronique Geoffroy; Elise Schaefer; Jean Muller; Kirsley Chennen; Elisabeth Flori; Valérie Pelletier; Olivier Poch; Vincent Marion; Corinne Stoetzel; Uwe Strähle; Maxence V Nachury; Hélène Dollfus
Journal:  J Med Genet       Date:  2013-09-11       Impact factor: 6.318

3.  Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Authors:  Jean Muller; C Stoetzel; M C Vincent; C C Leitch; V Laurier; J M Danse; S Hellé; V Marion; V Bennouna-Greene; S Vicaire; A Megarbane; J Kaplan; V Drouin-Garraud; M Hamdani; S Sigaudy; C Francannet; J Roume; P Bitoun; A Goldenberg; N Philip; S Odent; J Green; M Cossée; E E Davis; N Katsanis; D Bonneau; A Verloes; O Poch; J L Mandel; H Dollfus
Journal:  Hum Genet       Date:  2010-02-23       Impact factor: 4.132

4.  IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Authors:  Mohammed A Aldahmesh; Yuanyuan Li; Amal Alhashem; Shams Anazi; Hisham Alkuraya; Mais Hashem; Ali A Awaji; Sameera Sogaty; Abdullah Alkharashi; Saeed Alzahrani; Selwa A Al Hazzaa; Yong Xiong; Shanshan Kong; Zhaoxia Sun; Fowzan S Alkuraya
Journal:  Hum Mol Genet       Date:  2014-01-31       Impact factor: 6.150

5.  Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.

Authors:  Agnieszka Jurecka; Ewa Piotrowska; Loreta Cimbalistiene; Nina Gusina; Agnieszka Sobczyńska; Barbara Czartoryska; Kamila Czerska; Katrin Õunap; Grzegorz Węgrzyn; Anna Tylki-Szymańska
Journal:  Mol Genet Metab       Date:  2011-11-11       Impact factor: 4.797

6.  Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

Authors:  T Dörk; M Macek; F Mekus; B Tümmler; J Tzountzouris; T Casals; A Krebsová; M Koudová; I Sakmaryová; M Macek; V Vávrová; D Zemková; E Ginter; N V Petrova; T Ivaschenko; V Baranov; M Witt; A Pogorzelski; J Bal; C Zékanowsky; K Wagner; M Stuhrmann; I Bauer; H H Seydewitz; T Neumann; S Jakubiczka
Journal:  Hum Genet       Date:  2000-03       Impact factor: 4.132

7.  Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

Authors:  Vincent Marion; Fanny Stutzmann; Marion Gérard; Charlie De Melo; Elise Schaefer; Aurélie Claussmann; Sophie Hellé; Valérie Delague; Eric Souied; Catherine Barrey; Alain Verloes; Corinne Stoetzel; Hélène Dollfus
Journal:  J Med Genet       Date:  2012-04-17       Impact factor: 6.318

8.  Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Authors:  Claire Redin; Stéphanie Le Gras; Oussema Mhamdi; Véronique Geoffroy; Corinne Stoetzel; Marie-Claire Vincent; Pietro Chiurazzi; Didier Lacombe; Ines Ouertani; Florence Petit; Marianne Till; Alain Verloes; Bernard Jost; Habiba Bouhamed Chaabouni; Helene Dollfus; Jean-Louis Mandel; Jean Muller
Journal:  J Med Genet       Date:  2012-07-07       Impact factor: 6.318

9.  Hereditary breast-ovarian cancer syndrome in Russia.

Authors:  A P Sokolenko; A G Iyevleva; N V Mitiushkina; E N Suspitsin; E V Preobrazhenskaya; E Sh Kuligina; D A Voskresenskiy; O S Lobeiko; N Yu Krylova; T V Gorodnova; K G Buslov; E M Bit-Sava; G D Dolmatov; N V Porhanova; I S Polyakov; S N Abysheva; A S Katanugina; D V Baholdin; G A Yanus; A V Togo; V M Moiseyenko; S Ya Maximov; V F Semiglazov; E N Imyanitov
Journal:  Acta Naturae       Date:  2010-10       Impact factor: 1.845

10.  Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

Authors:  Muhammad Ajmal; Muhammad Imran Khan; Kornelia Neveling; Ali Tayyab; Sulman Jaffar; Ahmed Sadeque; Humaira Ayub; Nasir Mahmood Abbasi; Moeen Riaz; Shazia Micheal; Christian Gilissen; Syeda Hafiza Benish Ali; Maleeha Azam; Rob W J Collin; Frans P M Cremers; Raheel Qamar
Journal:  Mol Vis       Date:  2013-03-21       Impact factor: 2.367
  10 in total
  2 in total

Review 1.  Bardet-Biedl Syndrome.

Authors:  Evgeny N Suspitsin; Evgeny N Imyanitov
Journal:  Mol Syndromol       Date:  2016-04-15

2.  Genetics of body fat mass and related traits in a pig population selected for leanness.

Authors:  Henry Reyer; Patrick F Varley; Eduard Murani; Siriluck Ponsuksili; Klaus Wimmers
Journal:  Sci Rep       Date:  2017-08-22       Impact factor: 4.379
  2 in total

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