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Article

A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.

Neuromuscular disorders : NMD - 1 Sept 2026

Paprocka Justyna, Ściślicka-Stelmach Adrianna, Bieczek Dominika, Servais Laurent

Abstract excerpt

Spinal muscular atrophy with congenital bone fractures type 2 (SMABF2) is an ultra-rare neuromuscular disorder caused by pathogenic variants affecting the ASC-1 complex, most commonly ASCC1. The disorder is typically characterized by severe congenital hypotonia, prenatal or congenital fractures, and early respiratory failure. We report a girl with a novel homozygous intronic donor-site variant, c.95+5G>C, in...

Read the complete abstract on PubMed

Topics

Humans
Female
Phenotype
Muscular Atrophy, Spinal
Child
Mutation
Spinal Muscular Atrophies of Childhood

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

RNA Splice Sites

Carrier Proteins

Source

Identifiers

PMID: 42526191
DOI: 10.1016/j.nmd.2026.106462

Genes

ASCC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.PMID 42526191Read ↗

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Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : evidence supporting a "Definitive" gene-disease relationshipSemantic proximity Read ↗

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fracturesSemantic proximity Read ↗

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