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

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Authors
Elouej, S.
Beleza-Meireles, A.
Caswell, R.
Colclough, Kevin
Ellard, Sian
Desvignes, J. P.
Béroud, C.
Lévy, N.
Mohammed, S.
De Sandre-Giovannoli, A.
Journal
Metabolism: clinical and experimental
Type
Journal Article
Publisher
Elsevier
Rights
Archived with thanks to Metabolism: clinical and experimental
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.
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