A common FGFR3 gene mutation in hypochondroplasia

Human Molecular Genetics
P PrinosP Tsipouras

Abstract

Hypochondroplasia is a genetic disorder of disproportionate short stature. Linkage analysis provisionally placed hypochondroplasia in the chromosome 4p 16.3 region, a location to which the FGFR3 gene has been mapped. The genotyping of a three-generation family showed no recombinants between the hypochondroplasia phenotype and three highly polymorphic markers flanking the FGFR3 gene. Mutation analysis was performed by RT-PCR and direct sequencing. Primers covering most of the coding sequence of the FGFR3 gene were used for RT-PCR of FGFR3 mRNA and PCR amplification of genomic DNA. A C-->A transversion was detected in nucleotide 1659 predicting an N540K substitution in exon 11 which encodes part of the TK1 domain. The same mutation was found in an individual suspected to be an achondroplasia/hypochondroplasia compound phenotype and affected individuals from three other unrelated families. A second mutation, a C-->G transversion, also in nucleotide 1659 was detected in all affected individuals of another family. The latter also predicts an N540K substitution. These findings establish that a common mutation in the FGFR3 gene underlies hypochondroplasia.

Citations

Feb 5, 1998·American Journal of Medical Genetics·C PrinsterM Ferrari
Jul 29, 1999·Human Mutation·M R Passos-BuenoH Kitoh
Jan 12, 2002·Journal of Cellular Biochemistry·Craig A PraulRoland M Leach
Jun 1, 1997·Current Opinion in Genetics & Development·L De Moerlooze, C Dickson
Dec 1, 1996·Cytokine & Growth Factor Reviews·M Goldfarb
Aug 1, 1997·Acta Paediatrica Japonica; Overseas Edition·K Ozono
Dec 1, 1996·Acta Paediatrica·A AlderbornC Wadelius
Apr 2, 1999·Acta Paediatrica. Supplement·U RamaswamiC G Brook
Sep 1, 1996·Journal of Medical Genetics·F RousseauM Le Merrer
Oct 9, 2007·Archives of Physiology and Biochemistry·Antonio MarchiniKatja U Schneider
Apr 23, 2003·American Journal of Medical Genetics. Part a·Christel Thauvin-RobinetMartine Le Merrer
Mar 5, 2016·American Journal of Human Genetics·James T BennettLaura M McDonell
May 19, 2009·American Journal of Medical Genetics. Part a·Stéphanie PannierLaurence Legeai-Mallet
Nov 21, 2012·American Journal of Medical Genetics. Part a·Tarja LinnankiviSanna Toiviainen-Salo
Sep 13, 2011·American Journal of Medical Genetics. Part a·Angeliki HatzakiVoula Velissariou
Aug 14, 2012·American Journal of Medical Genetics. Part a·Michael B BoberWilliam Mackenzie
Jan 24, 2015·Molecular Genetics & Genomic Medicine·Yuan XueWilliam R Wilcox
Apr 10, 2014·American Journal of Medical Genetics. Part a·M Laura Garcia De RosaM Gabriela Obregon
Mar 13, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·D PugashS Langlois
Jul 22, 1998·The Journal of Pediatrics·U RamaswamiC G Brook
Oct 29, 2005·Matrix Biology : Journal of the International Society for Matrix Biology·S WeizmannE Monsonego-Ornan
Sep 1, 1996·Endocrinology and Metabolism Clinics of North America·W A Horton
Jan 1, 2006·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Mitsukazu MamadaTatsutoshi Nakahata
Dec 7, 2007·Developmental Cell·Cristina A de FrutosM Angela Nieto
Jun 4, 2013·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hui WangJiansheng Xie
Dec 31, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Masaki MatsushitaNaoki Ishiguro
Jul 11, 2007·Journal of Child Neurology·Peter Kannu, Salim Aftimos
Mar 3, 1998·American Journal of Medical Genetics·T J WrightM R Altherr
Feb 28, 2003·American Journal of Medical Genetics. Part a·Simone M E A A Jap-A-JoeChantal M A M van der Horst
Aug 19, 2003·American Journal of Medical Genetics. Part a·Maureen A Flynn, Richard M Pauli
Jan 30, 2007·American Journal of Medical Genetics. Part a·Heloísa G SantosAndrew Wilkie
Nov 15, 2007·American Journal of Medical Genetics. Part a·Jules G LeroyGeert R Mortier

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.