title: Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
abstract: Autosomal-dominant brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Alterations that predict haploinsufficiency of PTHLH, the gene coding for parathyroid hormone related protein (PTHrP), have been identified as a cause of this disorder in seven families. Here, we report three patients affected with brachydactyly type E, caused by PTHLH mutations expected to result in haploinsufficiency, and discuss our data compared to published reports.
authors.affiliation: Pediatric Endocrinology, APHP, Hôpital Bicêtre, Le Kremlin Bicêtre, France.
authors.forename: Cecile
authors.initials: C
authors.lastname: Thomas-Teinturier
authors.affiliation: Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.
authors.forename: Arrate
authors.initials: A
authors.lastname: Pereda
authors.affiliation: Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.
authors.forename: Intza
authors.initials: I
authors.lastname: Garin
authors.affiliation: Department of Pediatrics, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Diez-Lopez
authors.affiliation: Pediatric Endocrinology, APHP, Hôpital Bicêtre, Le Kremlin Bicêtre, France.|INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France.|Centre de Référence des Maladies Rares du Métabolisme du calcium et du phosphore and Plateforme d'Expertise Paris Sud Maladies Rares, Hôpital Bicêtre, Le Kremlin Bicêtre, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Linglart
authors.affiliation: INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France.|Service de Biochimie et Génétique Moléculaires, Hôpital Cochin, Paris, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Silve
authors.affiliation: Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.
authors.forename: Guiomar Pérez
authors.initials: GP
authors.lastname: de Nanclares
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D059327:Brachydactyly / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D005260:Female; D056426:Genetic Loci; D006801:Humans; D009154:Mutation; D044162:Parathyroid Hormone-Related Protein / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D022821:RNA Splice Sites; D017384:Sequence Deletion
chemical_list: C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein; D022821:RNA Splice Sites
keywords: PTHLH; PTHrP; brachydactyly type E; short stature