Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Gannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; Mehawej, Cybel; Santoni, Federico; Guipponi, Michel; Antonarakis, Stylianos; Hamamy, Hanan; Mégarbané, André

doi:10.1016/j.bone.2014.08.014

Scientific article

Case report

English

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

ContributorsGannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; Mehawej, Cybel; Santoni, Federico; Guipponi, Michel; Antonarakis, Stylianos; Hamamy, Hanan; Mégarbané, André

Published inBone, vol. 68, p. 142-145

Publication date2014

Abstract

Hypophosphatemic rickets (HR) comprises a rare group of inherited diseases. Very recently, mutations in the dentin matrix protein 1 (DMP1) gene were identified in patients with an extremely rare autosomal recessive form of HR (ARHR). To date, very few cases of these mutations were reported.

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research groups

Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)

Citation (ISO format)

GANNAGÉ-YARED, Marie-Hélène et al. Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia. In: Bone, 2014, vol. 68, p. 142–145. doi: 10.1016/j.bone.2014.08.014

Article (Published version)

Identifiers

PID : unige:42299
DOI : 10.1016/j.bone.2014.08.014
PMID : 25180662

ISSN of the journal1873-2763

562views

0downloads

Creation26/11/2014 16:27:00

First validation26/11/2014 16:27:00

Update time14/03/2023 22:18:50

Status update14/03/2023 22:18:50

Last indexation04/10/2024 03:33:41

Archive ouverte UNIGE

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Hypophosphatemic rickets (HR) comprises a rare group of inherited diseases. Very recently, mutations in the dentin matrix protein 1 (DMP1) gene were identified in patients with an extremely rare autosomal recessive form of HR (ARHR). To date, very few cases of these mutations were reported.

Technical informations