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Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Human molecular genetics - 4 Nov 2020

Micale Lucia, Cialfi Samantha, Fusco Carmela, Cinque Luigia, Castellana Stefano, Biagini Tommaso, Talora Claudio, Notarangelo Angelantonio, Bisceglia Luigi, Taruscio Domenica, Salvatore Marco, Castori Marco

Abstract excerpt

SPONASTRIME dysplasia is an ultrarare spondyloepimetaphyseal dysplasia featuring short stature and short limbs, platyspondyly, depressed nasal bridge with midface hypoplasia and striated metaphyses. In 2019, an autosomal recessive inheritance was demonstrated by the identification of bi-allelic hypomorphic alleles in TONSL. The encoded protein has a critical role in maintaining genome integrity by promoting the...

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PMID: 32959051
DOI: 10.1093/hmg/ddaa195

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.PMID 32959051Read ↗

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