Premium
Homozygous N540K hypochondroplasia—First report: Radiological and clinical features
Author(s) -
De Rosa M. Laura Garcia,
Fano Virginia,
Araoz H. Verónica,
Chertkoff Lilien,
Obregon M. Gabriela
Publication year - 2014
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.36504
Subject(s) - achondroplasia , phenotype , mutation , genetic counseling , medicine , dwarfism , radiological weapon , loss of heterozygosity , genetics , pediatrics , biology , gene , allele , radiology
We describe a 16‐month‐old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound heterozygosity. This case represents a new expression of FGFR3 spectrum and it is of considerable importance for the genetic counseling in cases where both parents are affected with HCH. © 2014 Wiley Periodicals, Inc.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom