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Article

DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

Annals of human genetics - 1 Jan 2025

Porto Vasconcelos Alice, Quental Sofia, Freixo João Parente, Pacheco João Machado, Rodrigues Sofia, Magalhães Magda, Oliveira Renata, Braga Ana Costa, Quental Rita

Abstract excerpt

The DYNC2H1 gene has been associated with short-rib polydactyly syndrome (SRPS), among other skeletal ciliopathies. Two cases are presented of distinctive phenotypes resulting from splicing variants in DYNC2H1. The first is a 14-week-old fetus with enlarged nuchal translucency, oral hamartoma, malformed uvula, bifid epiglottis, short ribs, micromelia, long bone agenesis, polysyndactyly, heart defect, pancreatic...

Topics

Humans
Cytoplasmic Dyneins
Short Rib-Polydactyly Syndrome
Male
Orofaciodigital Syndromes
Female
Child
RNA Splicing
Phenotype
Pregnancy
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fetus

Source

Identifiers

PMID: 39361243
DOI: 10.1111/ahg.12581

Genes

DYNC2H1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-39361243-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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