000119800 001__ 119800
000119800 005__ 20240319081002.0
000119800 0247_ $$2doi$$a10.3389/fgene.2022.993064
000119800 0248_ $$2sideral$$a130765
000119800 037__ $$aART-2022-130765
000119800 041__ $$aeng
000119800 100__ $$0(orcid)0000-0001-6858-1575$$aGil Salvador, M.$$uUniversidad de Zaragoza
000119800 245__ $$aCase report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
000119800 260__ $$c2022
000119800 5060_ $$aAccess copy available to the general public$$fUnrestricted
000119800 5203_ $$aUltimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow this inheritance pattern. However, the high prevalence of somatic mosaicism recently reported in this syndrome (∼13%), together with the disparity observed in tissue distribution of the causal variant, suggests that its prevalence in this disorder could be underestimated. Here, we report a new case of parental gonadosomatic mosaicism in SMC1A gene that causes inherited CdLS, in which the mother of the patient carries the causative variant in very low allele frequencies in buccal swab and blood. While the affected child presents with typical CdLS phenotype, his mother does not show any clinical manifestations. As regards SMC1A, the difficulty of clinical identification of carrier females has been already recognized, as well as the gender differences observed in CdLS expressivity when the causal variant is found in this gene. Currently, the use of DNA deep-sequencing techniques is highly recommended when it comes to molecular diagnosis of patients, as well as in co-segregation studies. These enable us to uncover gonadosomatic mosaic events in asymptomatic or oligosymptomatic parents that had been overlooked so far, which might have great implications regarding genetic counseling for recurrence risk.
000119800 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B32-17R$$9info:eu-repo/grantAgreement/ES/DGA/B32-20R$$9info:eu-repo/grantAgreement/ES/ISCIII/PI19-01860
000119800 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000119800 590__ $$a3.7$$b2022
000119800 592__ $$a1.0$$b2022
000119800 591__ $$aGENETICS & HEREDITY$$b60 / 171 = 0.351$$c2022$$dQ2$$eT2
000119800 593__ $$aGenetics$$c2022$$dQ2
000119800 593__ $$aMolecular Medicine$$c2022$$dQ2
000119800 593__ $$aGenetics (clinical)$$c2022$$dQ2
000119800 594__ $$a5.2$$b2022
000119800 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000119800 700__ $$0(orcid)0000-0002-4703-6620$$aLatorre Pellicer, A.$$uUniversidad de Zaragoza
000119800 700__ $$aLucía-Campos, C.
000119800 700__ $$0(orcid)0000-0001-9962-2157$$aArnedo, M.$$uUniversidad de Zaragoza
000119800 700__ $$aDarnaude, M. T.
000119800 700__ $$aDíaz de Bustamante, A.
000119800 700__ $$aVillares, R.
000119800 700__ $$aPalma Milla, C.
000119800 700__ $$0(orcid)0000-0003-0170-7326$$aPuisac, B.$$uUniversidad de Zaragoza
000119800 700__ $$aMusio, A.
000119800 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, F. J.$$uUniversidad de Zaragoza
000119800 700__ $$0(orcid)0000-0003-3203-6254$$aPié, J.$$uUniversidad de Zaragoza
000119800 7102_ $$11012$$2410$$aUniversidad de Zaragoza$$bDpto. Farmac.Fisiol.y Med.L.F.$$cÁrea Fisiología
000119800 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000119800 773__ $$g13 (2022), 993064[7 pp.]$$pFront. genet.$$tFrontiers in Genetics$$x1664-8021
000119800 8564_ $$s996095$$uhttps://zaguan.unizar.es/record/119800/files/texto_completo.pdf$$yVersión publicada
000119800 8564_ $$s2043399$$uhttps://zaguan.unizar.es/record/119800/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000119800 909CO $$ooai:zaguan.unizar.es:119800$$particulos$$pdriver
000119800 951__ $$a2024-03-18-14:16:02
000119800 980__ $$aARTICLE