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

Détails

ID Serval
serval:BIB_4B4DB483F7A2
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
Périodique
Clinical dysmorphology
Auteur(s)
Nampoothiri S., Elcioglu N.H., Koca S.S., Yesodharan D., Kk C., Krishnan V., Bhat M., Radhakrishnan N., Kappanayil M., Sheth J.J., Alves S., Coutinho F., Friez M.J., Pauli R.M., Unger S., Superti-Furga A., Leroy J.G., Cathey S.S.
Collaborateur(s)
Mohandas Nair K
ISSN
1473-5717 (Electronic)
ISSN-L
0962-8827
Statut éditorial
Publié
Date de publication
01/2019
Peer-reviewed
Oui
Volume
28
Numéro
1
Pages
7-16
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Mucolipidosis-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.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Female, Humans, Male, Mucolipidoses/diagnosis, Mucolipidoses/diagnostic imaging, Mucolipidoses/genetics, Mucolipidoses/pathology, Phenotype, Young Adult
Pubmed
Web of science
Création de la notice
04/01/2019 14:01
Dernière modification de la notice
20/08/2019 14:59
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