Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.

Cecile Thomas-Teinturier, Arrate Pereda, Intza Garin, Ignacio Diez-Lopez, Agnès Linglart, Caroline Silve, Guiomar Pérez de Nanclares

Journal: American journal of medical genetics. Part A 2016;170(3):734-42

PMID: 26640227

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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.

Address: Pediatric Endocrinology, APHP, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.; Department of Pediatrics, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.; 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.; INSERM U1169, Hôpital Bicêtre, Le Kremlin Bicêtre, et Université Paris-Saclay, France.; Service de Biochimie et Génétique Moléculaires, Hôpital Cochin, Paris, France.

DOI: 10.1002/ajmg.a.37490

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MeSH Terms: Adult, Bone and Bones, Brachydactyly, Child, Female, Genetic Loci, Humans, Mutation, Parathyroid Hormone-Related Protein, Pedigree, Phenotype, RNA Splice Sites, Sequence Deletion