Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

被引：0

作者：

Ullah, Asmat ^{[1
]}

Umair, Muhammad ^{[1
,4
,5
]}

Yousaf, Maryam ^{[2
]}

Khan, Sher Alam ^{[6
]}

Nazim-ud-Din, Muhammad ^{[3
]}

Shah, Khadim ^{[1
]}

Ahmad, Farooq ^{[1
]}

Azeem, Zahid ^{[2
]}

Ali, Ghazanfar ^{[3
]}

Alhaddad, Bader ^{[4
,5
]}

Rafique, Afzal ^{[1
]}

Jan, Abid ^{[1
,6
]}

Haack, Tobias B. ^{[4
,5
]}

Strom, Tim M. ^{[4
,5
]}

Meitinger, Thomas ^{[4
,5
]}

Ghous, Tahseen ^{[2
]}

Ahmad, Wasim ^{[1
]}

机构：

[1] Quaid I Azam Univ, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan

[2] Univ Azad Jammu & Kashmir, Dept Chem, Muzaffarabad, Pakistan

[3] Univ Azad Jammu & Kashmir, Dept Biotechnol, Muzaffarabad, Pakistan

[4] Tech Univ Munich, Inst Human Genet, Munich, Germany

[5] Helmholtz Zentrum Munchen, Inst Human Genet, Neuherberg, Germany

[6] KUST, Kohat, Khyber Pakhtunk, Pakistan

来源：

MOLECULAR VISION | 2017年 / 23卷

关键词：

MUTATIONS; IDENTIFICATION; BBS10; PROTEINS; DISEASE; COMPLEX; BBSOME; PHENOTYPE; COHORT; COMMON;

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Purpose: To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin. Methods: Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2. Family E was investigated directly with exome sequence analysis. Results: Sanger sequencing revealed two novel mutations and three previously reported mutations in the BBS genes. These mutations include two deletions (c.580_582delGCA, c.1592_1597delTTCCAG) in the BBS7 gene, a missense mutation (p.Gln449His) in the BBS8 gene, a frameshift mutation (c.271_272insT) in the BBS10 gene, and a nonsense mutation (p.Ser40*) in the MKKS (BBS6) gene. Conclusions: Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing BBS.

引用

页数：13

共 45 条

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