Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

2.50
Hdl Handle:
http://hdl.handle.net/11287/620377
Title:
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Authors:
Elouej, S.; Beleza-Meireles, A.; Caswell, R.; Colclough, Kevin; Ellard, Sian ( 0000-0002-7620-5526 ) ; Desvignes, J. P.; Béroud, C.; Lévy, N.; Mohammed, S.; De Sandre-Giovannoli, A.
Abstract:
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition.
Citation:
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). 2017, 71:213-225 Metab. Clin. Exp.
Publisher:
Elsevier
Journal:
Metabolism: clinical and experimental
Issue Date:
Jun-2017
URI:
http://hdl.handle.net/11287/620377
DOI:
10.1016/j.metabol.2017.03.011
PubMed ID:
28521875
Additional Links:
https://linkinghub.elsevier.com/retrieve/pii/S0026-0495(17)30098-7
Type:
Journal Article
Language:
en
ISSN:
1532-8600
Appears in Collections:
Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorElouej, S.en
dc.contributor.authorBeleza-Meireles, A.en
dc.contributor.authorCaswell, R.en
dc.contributor.authorColclough, Kevinen
dc.contributor.authorEllard, Sianen
dc.contributor.authorDesvignes, J. P.en
dc.contributor.authorBéroud, C.en
dc.contributor.authorLévy, N.en
dc.contributor.authorMohammed, S.en
dc.contributor.authorDe Sandre-Giovannoli, A.en
dc.date.accessioned2017-07-21T15:19:59Z-
dc.date.available2017-07-21T15:19:59Z-
dc.date.issued2017-06-
dc.identifier.citationExome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). 2017, 71:213-225 Metab. Clin. Exp.en
dc.identifier.issn1532-8600-
dc.identifier.pmid28521875-
dc.identifier.doi10.1016/j.metabol.2017.03.011-
dc.identifier.urihttp://hdl.handle.net/11287/620377-
dc.description.abstractMandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among them 14 patients have been characterized at the molecular level. Twelve unrelated patients carried a recurrent in-frame deletion of a single codon (p.Ser605del) and two other patients carried a novel heterozygous mutation in exon 13 (p.Arg507Cys). Additionally and interestingly, germline mutations of the same gene have been involved in familial polyposis and colorectal cancer (CRC) predisposition.en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S0026-0495(17)30098-7en
dc.rightsArchived with thanks to Metabolism: clinical and experimentalen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleExome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).en
dc.typeJournal Articleen
dc.identifier.journalMetabolism: clinical and experimentalen
dc.type.versionPublisheden

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