Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.

doi:10.1111/cge.14150

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Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.

Clinical genetics - 1 Aug 2022

Vecchio Davide, Cocciadiferro Dario, Macchiaiolo Marina, Gonfiantini Michaela Veronika, Agolini Emanuele, Matraxia Marta, Carboni Alessia, Coretti Antonella, Villani Andrea, Panfili Filippo Maria, Dentici Maria Lisa, Buonuomo Paola Sabrina, Rana Ippolita, Colafati Giovanna Stefania, Digilio Maria Cristina, Novelli Antonio, Bartuli Andrea

Abstract excerpt

This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome to date observed in only other three children. This is the second report of biallelic mutations in MAPKAPK5 whose impairment during human development has been associated with neurological, cardiac, and facial anomalies combined with fingers and toes malformations. Through the affected...

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PMID: 35575217
DOI: 10.1111/cge.14150
PMCID: PMC9545400

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