Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.

doi:10.1016/j.ejmg.2017.11.011

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Article

Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.

European journal of medical genetics - 1 Mar 2018

Córdova-Fletes Carlos, Becerra-Solano Luis E, Rangel-Sosa Martha M, Rivas-Estilla Ana María, Alberto Galán-Huerta Kame, Ortiz-López Rocío, Rojas-Martínez Augusto, Juárez-Vázquez Clara I, García-Ortiz José E

Abstract excerpt

We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8;...

Topics

Abnormalities, Multiple
Adolescent
Bone and Bones
Brain Diseases
Child
Ciliopathies
Craniosynostoses
Cytoskeletal Proteins
Ectodermal Dysplasia
Female
Hedgehog Proteins
High-Throughput Nucleotide Sequencing
Homozygote

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intracellular Signaling Peptides and Proteins

Male

Microtubule-Associated Proteins

Mutation, Missense

Source

Open in PubMed

Identifiers

PMID: 29174089
DOI: 10.1016/j.ejmg.2017.11.011

Genes

SPAG17

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-29174089-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.