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Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a Cohort of 18 patients

2019-01Journal article Restricted access
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dc.contributor.authorNampoothiri, Sheela
dc.contributor.authorElcioglu, Nursel H.
dc.contributor.authorKoca, Suleyman S.
dc.contributor.authorYesodharan, Dhanya
dc.contributor.authorKk, Chandrababu
dc.contributor.authorKrishnan, Vinod
dc.contributor.authorBhat, Meenakshi
dc.contributor.authorNair K, Mohandas
dc.contributor.authorRadhakrishnan, Natasha
dc.contributor.authorKappanayil, Mahesh
dc.contributor.authorSheth, Jayesh J.
dc.contributor.authorAlves, Sandra
dc.contributor.authorCoutinho, Francisca
dc.contributor.authorFriez, Michael J.
dc.contributor.authorPauli, Richard M.
dc.contributor.authorUnger, Sheila
dc.contributor.authorSuperti-Furga, Andrea
dc.contributor.authorLeroy, Jules G.
dc.contributor.authorCathey, Sara S.
dc.date.accessioned2020-05-02T18:14:58Z
dc.date.available2020-05-02T18:14:58Z
dc.date.issued2019-01
dc.description.abstractMucolipidosis-IIIγ (ML-IIIγ) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in GNPTG. We report the genetic and clinical findings in the largest cohort with ML-IIIγ so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confirmed in eight of 12 families, molecular characterization showed that all affected patients had homozygous pathogenic GNPTG genotypes, underscoring the rarity of the disorder. Unlike ML-IIIαβ, which present with a broader spectrum of severity, the ML-III γ phenotype is milder, with onset in early school age, but nonetheless thus far considered phenotypically not differentiable from ML-IIIαβ. Evaluation of this cohort has yielded phenotypic findings including hypertrophy of the forearms and restricted supination as clues for ML-IIIγ, facilitating an earlier correct choice of genotype screening. Early identification of this disorder may help in offering a timely intervention for the relief of carpal tunnel syndrome, monitoring and surgery for cardiac valve involvement, and evaluation of the need for joint replacement. As this condition may be confused with rheumatoid arthritis, confirmation of diagnosis will prevent inappropriate use of immunosuppressants and disease-modifying agents.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249pt_PT
dc.identifier.doi10.1097/MCD.0000000000000249pt_PT
dc.identifier.issn0962-8827
dc.identifier.urihttp://hdl.handle.net/10400.18/6581
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWolters Kluwer Healthpt_PT
dc.relation.publisherversionhttps://journals.lww.com/clindysmorphol/Abstract/2019/01000/Does_the_clinical_phenotype_of_mucolipidosis_III_.2.aspxpt_PT
dc.subjectLysosomal Storage Diseasespt_PT
dc.subjectMucolipidosis-IIIαβpt_PT
dc.subjectMucolipidosis IIIγpt_PT
dc.subjectCarpal Tunnel Syndromept_PT
dc.subjectClawing of Fingers
dc.subjectGenu Valgum
dc.subjectGNPTG
dc.subjectHypertrophy of Forearm
dc.subjectDoenças Genéticas
dc.titleDoes the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a Cohort of 18 patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage16pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage7pt_PT
oaire.citation.titleClinical Dysmorphologypt_PT
oaire.citation.volume28pt_PT
rcaap.embargofctDe acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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