Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

doi:10.1038/s41431-025-01803-2

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Article

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

European journal of human genetics : EJHG - 1 Nov 2025

Scheidecker Sophie, Bär Séverine, Kröll-Hermi Ariane, Delvallée Clarisse, Rinaldi Bruno, Korpioja Anita, Geoffroy Véronique, Schaefer Elise, Secula Samira, Jaeger Catherine, Stoetzel Corinne, Kassel Olivier, Straehle Uwe, Bertoli-Avella Aida, Zonic Emir, Lamouche Jean-Baptiste, Zanlonghi Xavier, Etard Christelle, Muller Jean, Rahikkala Elisa, Friant Sylvie, Dollfus Hélène

Abstract excerpt

Syndromes associating both eyeball and periocular developmental anomalies, combining iris chorioretinal (ocular) coloboma and ptosis, are described in very rare clinical entities such as Baraitser-Winter cerebrofrontofacial syndrome (BWCFF). We report on six individuals from 3 unrelated families presenting with autosomal dominant eye malformations, including ocular coloboma, ptosis and craniofacial features...

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PMID: 40044823
DOI: 10.1038/s41431-025-01803-2
PMCID: PMC12583591

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MYH10

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