High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

doi:10.1038/s10038-021-00925-x

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Article

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal of human genetics - 1 Oct 2021

Hammarsjö Anna, Pettersson Maria, Chitayat David, Handa Atsuhiko, Anderlid Britt-Marie, Bartocci Marco, Basel Donald, Batkovskyte Dominyka, Beleza-Meireles Ana, Conner Peter, Eisfeldt Jesper, Girisha Katta M, Chung Brian Hon-Yin, Horemuzova Eva, Hyodo Hironobu, Korņejeva Liene, Lagerstedt-Robinson Kristina, Lin Angela E, Magnusson Måns, Moosa Shahida, Nayak Shalini S, Nilsson Daniel, Ohashi Hirofumi, Ohashi-Fukuda Naoko, Stranneheim Henrik, Taylan Fulya, Traberg Rasa, Voss Ulrika, Wirta Valtteri, Nordgren Ann, Nishimura Gen, Lindstrand Anna, Grigelioniene Giedre

Abstract excerpt

Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with...

Topics

Adult
Aged
Bone Diseases, Developmental
Ciliopathies
Cytoplasmic Dyneins
Cytoskeletal Proteins
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Genome, Human

High-Throughput Nucleotide Sequencing

Humans

Intercellular Signaling Peptides and Proteins

Intracellular Signaling Peptides and Proteins

Male

Membrane Proteins

Microtubule-Associated Proteins

Middle Aged

Muscle, Skeletal

Source

Open in PubMed Open full text

Identifiers

PMID: 33875766
DOI: 10.1038/s10038-021-00925-x
PMCID: PMC8472897

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-33875766-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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