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Article

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

Molecular vision - 1 Jan 2013

Ajmal Muhammad, Khan Muhammad Imran, Neveling Kornelia, Tayyab Ali, Jaffar Sulman, Sadeque Ahmed, Ayub Humaira, Abbasi Nasir Mahmood, Riaz Moeen, Micheal Shazia, Gilissen Christian, Ali Syeda Hafiza Benish, Azam Maleeha, Collin Rob W J, Cremers Frans P M, Qamar Raheel

Abstract excerpt

PURPOSE: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal profiling. Seventeen genes are known to be associated with BBS, so exome sequencing was preferred over candidate gene...

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Identifiers

PMID: 23559858
PMCID: PMC3616519

Genes

BBS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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