RT Journal Article
T1 Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia
A1 Justicia Grande, Antonio
A1 Gómez Rial, José
A1 Rivero Calle, Irene
A1 Pischedda, Sara
A1 Currás Tuala, María José
A1 Gómez Carballa, Alberto
A1 Cebey López, Miriam
A1 Pardo Seco, Jacobo José
A1 Méndez Gallart, Roberto
A1 Fernández Seara, María José
A1 Salas Ellacuriaga, Antonio
A1 Martinón Torres, Federico
K1 Progressive osseous heteroplasia
K1 POH
K1 Treatment
K1 Genetic diseases
K1 Monochorionic twins
AB Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue. POH is one of the clinical manifestations of an inactivating mutation in the GNAS gene. GNAS gene alterations are difficult matter to address, as GNAS alleles show genetic imprinting and produce several transcript products, and the same mutation may lead to strikingly different phenotypes. Also, most of the publications concerning POH patients are either clinical depictions of a case (or a case series), descriptions of their genetic background, or a tentative correlation of both clinical and molecular findings. Treatment for POH is rarely addressed, and POH still lacks therapeutic options. We describe a unique case of POH in two monochorionic twins, who presented an almost asymptomatic vs. the severe clinical course, despite sharing the same mutation and genetic background. We also report the results of the therapeutic interventions currently available for heterotopic ossification in the patient with the severe course. This article not only critically supports the assumption that the POH course is strongly influenced by factors beyond genetic background but also remarks the lack of options for patients suffering an orphan disease, even after testing drugs with promising in vitro results
PB Frontiers Media
YR 2021
FD 2021
LK http://hdl.handle.net/10347/26687
UL http://hdl.handle.net/10347/26687
LA eng
NO Justicia-Grande AJ, Gómez-Ríal J, Rivero-Calle I, Pischedda S, Curras-Tuala MJ, Gómez-Carballa A, Cebey-López M, Pardo-Seco J, Méndez-Gallart R, Fernández-Seara MJ, Salas A and Martinón-Torres F (2021) Case Report: Two Monochorionic Twins With a Critically Different Course of Progressive Osseus Heteroplasia. Front. Pediatr. 9:662669. doi: 10.3389/fped.2021.662669
NO This study received support from the Instituto de Salud Carlos III (Proyecto de Investigación en Salud, Acción Estratégica en Salud): project GePEM ISCIII/PI16/01478/Cofinanciado FEDER) (AS) and project ReSVinext ISCIII/PI16/01569/Cofinanciado FEDER (FM-T); Consellería de Sanidade, Xunta de Galicia (RHI07/2-intensificación actividad investigadora, PS09749 and 10PXIB918184PR), Instituto de Salud Carlos III (Intensificación de la actividad investigadora 2007–2012, PI16/01569), Fondo de Investigación Sanitaria (FIS; PI070069/PI1000540) del plan nacional de I + D + I and fondos FEDER (FM-T), and 2016-PG071 Consolidación e Estructuración REDES 2016GI-1344 G3VIP (Grupo Gallego de Genética Vacunas Infecciones y Pediatría, 3) (AS and FM-T)
DS Minerva
RD 27 abr 2026