Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

doi:10.1016/j.ajhg.2016.07.011

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Article

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

American journal of human genetics - 6 Oct 2016

Vetrini Francesco, D'Alessandro Lisa C A, Akdemir Zeynep C, Braxton Alicia, Azamian Mahshid S, Eldomery Mohammad K, Miller Kathryn, Kois Chelsea, Sack Virginia, Shur Natasha, Rijhsinghani Asha, Chandarana Jignesh, Ding Yan, Holtzman Judy, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Eng Christine M, Hanchard Neil A, Harel Tamar, Rosenfeld Jill A, Belmont John W, Lupski James R, Yang Yaping

Abstract excerpt

Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus (heterotaxy). The genetic causes of laterality defects in humans are highly heterogeneous. Via whole-exome sequencing (WES), we identified homozygous mutations in PKD1L1 from three affected individuals in two unrelated families. PKD1L1 encodes a polycystin-1-like...

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Identifiers

PMID: 27616478
DOI: 10.1016/j.ajhg.2016.07.011
PMCID: PMC5065643

Genes

PKD1

Variants

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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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