Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

Battisti Gladys; Wintjens René; Decottignies Anabelle; Merhi Ahmad; Fervaille Caroline; Sokal Etienne; Karadurmus Deniz; Benoit Valerie; Claessens Anick; Martinet Jean-Paul; Martiat Benoît; Kinzinger Philippe; Isabelle Maystadt

doi:10.1016/j.ejmg.2021.104333

Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

Battisti Gladys, Wintjens René, Decottignies Anabelle, Merhi Ahmad, Fervaille Caroline, Sokal Etienne, Karadurmus Deniz, Benoit Valerie, Claessens Anick, Martinet Jean-Paul, Martiat Benoît, Kinzinger Philippe, Isabelle Maystadt

Faculte de medecine

Résultats de recherche: Contribution à un journal/une revue › Article › Revue par des pairs

Résumé

Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients. We report a novel de novo c.3214A>C p.(Thr1072Pro) variant in POLD1 in a 28-year-old male with MDPL syndrome. We provide a clinical description, molecular/immunohistological results, and literature review.

langue originale	Anglais
Numéro d'article	104333
journal	European Journal of Medical Genetics
Volume	64
Numéro de publication	12
Les DOIs	https://doi.org/10.1016/j.ejmg.2021.104333
Etat de la publication	Publié - déc. 2021

SDG des Nations Unies

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10.1016/j.ejmg.2021.104333

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title = "Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1",

abstract = "Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients. We report a novel de novo c.3214A>C p.(Thr1072Pro) variant in POLD1 in a 28-year-old male with MDPL syndrome. We provide a clinical description, molecular/immunohistological results, and literature review.",

keywords = "CysB motif, Lipodystrophy, MDPL syndrome, POLD1, Progeroid features",

author = "Battisti Gladys and Wintjens Ren{\'e} and Decottignies Anabelle and Merhi Ahmad and Fervaille Caroline and Sokal Etienne and Karadurmus Deniz and Benoit Valerie and Claessens Anick and Martinet Jean-Paul and Martiat Beno{\^i}t and Kinzinger Philippe and Isabelle Maystadt",

note = "Funding Information: We thank the patient and his family for their participation and consent. RW is a Research Associate with the Belgian National Funds for Scientific Research (FRS-FNRS). Publisher Copyright: {\textcopyright} 2021 Elsevier Masson SAS",

year = "2021",

month = dec,

doi = "10.1016/j.ejmg.2021.104333",

language = "English",

volume = "64",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier",

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T1 - Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

AU - Gladys, Battisti

AU - René, Wintjens

AU - Anabelle, Decottignies

AU - Ahmad, Merhi

AU - Caroline, Fervaille

AU - Etienne, Sokal

AU - Deniz, Karadurmus

AU - Valerie, Benoit

AU - Anick, Claessens

AU - Jean-Paul, Martinet

AU - Benoît, Martiat

AU - Philippe, Kinzinger

AU - Maystadt, Isabelle

N1 - Funding Information: We thank the patient and his family for their participation and consent. RW is a Research Associate with the Belgian National Funds for Scientific Research (FRS-FNRS). Publisher Copyright: © 2021 Elsevier Masson SAS

PY - 2021/12

Y1 - 2021/12

N2 - Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients. We report a novel de novo c.3214A>C p.(Thr1072Pro) variant in POLD1 in a 28-year-old male with MDPL syndrome. We provide a clinical description, molecular/immunohistological results, and literature review.

AB - Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients. We report a novel de novo c.3214A>C p.(Thr1072Pro) variant in POLD1 in a 28-year-old male with MDPL syndrome. We provide a clinical description, molecular/immunohistological results, and literature review.

KW - CysB motif

KW - Lipodystrophy

KW - MDPL syndrome

KW - POLD1

KW - Progeroid features

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DO - 10.1016/j.ejmg.2021.104333

M3 - Article

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AN - SCOPUS:85115259467

SN - 1769-7212

VL - 64

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 12

M1 - 104333

ER -

Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1

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