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Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
Author(s) -
ThomasTeinturier Cecile,
Pereda Arrate,
Garin Intza,
DiezLopez Ignacio,
Linglart Agnès,
Silve Caroline,
de Nanclares Guiomar Pérez
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37490
Subject(s) - haploinsufficiency , brachydactyly , genetics , medicine , gene , biology , pediatrics , phenotype , short stature
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. © 2015 Wiley Periodicals, Inc.