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

Asmat Ullah; Muhammad Umair; Maryam Yousaf; Sher Alam Khan; Muhammad Nazim-Ud-Din; Khadim Shah; Farooq Ahmad; Zahid Azeem; Ghazanfar Ali; Bader Alhaddad; Afzal Rafique; Abid Jan; Tobias B. Haack; Tim M. Strom; Thomas Meitinger; Tahseen Ghous; Wasim Ahmad

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

Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-Ud-Din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad

Medicine and Health

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	482-494
Number of pages	13
Journal	Molecular Vision
Volume	23
State	Published - 21 Jul 2017

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@article{6db5dad898124dd7a5fc0abb1728da98,

title = "Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families",

abstract = "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.",

author = "Asmat Ullah and Muhammad Umair and Maryam Yousaf and Khan, {Sher Alam} and Muhammad Nazim-Ud-Din and Khadim Shah and Farooq Ahmad and Zahid Azeem and Ghazanfar Ali and Bader Alhaddad and Afzal Rafique and Abid Jan and Haack, {Tobias B.} and Strom, {Tim M.} and Thomas Meitinger and Tahseen Ghous and Wasim Ahmad",

note = "Publisher Copyright: {\textcopyright} 2017 Molecular Vision.",

year = "2017",

month = jul,

day = "21",

language = "English",

volume = "23",

pages = "482--494",

journal = "Molecular Vision",

issn = "1090-0535",

publisher = "Molecular Vision",

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TY - JOUR

T1 - Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families

AU - Ullah, Asmat

AU - Umair, Muhammad

AU - Yousaf, Maryam

AU - Khan, Sher Alam

AU - Nazim-Ud-Din, Muhammad

AU - Shah, Khadim

AU - Ahmad, Farooq

AU - Azeem, Zahid

AU - Ali, Ghazanfar

AU - Alhaddad, Bader

AU - Rafique, Afzal

AU - Jan, Abid

AU - Haack, Tobias B.

AU - Strom, Tim M.

AU - Meitinger, Thomas

AU - Ghous, Tahseen

AU - Ahmad, Wasim

PY - 2017/7/21

Y1 - 2017/7/21

N2 - 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.

AB - 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.

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M3 - Article

C2 - 28761321

AN - SCOPUS:85025693417

SN - 1090-0535

VL - 23

SP - 482

EP - 494

JO - Molecular Vision

JF - Molecular Vision

ER -

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

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