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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.