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Article

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.

Clinical genetics - 1 Apr 2021

Majore Silvia, Agolini Emanuele, Micale Lucia, Pascolini Giulia, Zuppi Paolo, Cocciadiferro Dario, Morlino Silvia, Mattiuzzo Matteo, Valiante Michele, Castori Marco, Novelli Antonio, Grammatico Paola

Abstract excerpt

Biallelic pathogenic variants in POC1A result in SOFT (Short-stature, Onychodysplasia, Facial-dysmorphism, and hypoTrichosis) and variant POC1A-related (vPOC1A) syndromes. The latter, nowadays described in only two unrelated subjects, is associated with a restricted spectrum of variants falling in exon 10, which is naturally skipped in a specific POC1A mRNA. The synthesis of an amount of a POC1A isoform from this...

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PMID: 33372278
DOI: 10.1111/cge.13911

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