The 2017 international classification of the Ehlers–Danlos syndromes
- F. Malfait, C. Francomano, B. Tinkle
- BiologyAmerican Journal of Medical Genetics. Part C…
- 1 March 2017
The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes, and revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders.
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
It is concluded that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1, and a stop codon in exon 11, predicted to truncate the protein at amino acid 179, which segregates with the disease.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p are presented.
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
- G. Bellus, T. Hefferon, C. Francomano
- Biology, MedicineAmerican Journal of Human Genetics
- 1 February 1995
The homogeneity of mutations in achondroplasia is unprecedented for an autosomal dominant disorder and may explain the relative lack of heterogeneity in the achonderized phenotype.
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
The findings reported here confirm that NOG is essential for joint formation and suggest that Nog requirements during skeletogenesis differ between species and between specific skeletal elements within species.
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.
The first mouse model of fibro-blast growth factor receptor 3 with the K644E mutation is generated, which accurately reflects the embryonic onset of a neonatal lethal dwarfism, thanatophoric dysplasia type II (TDII), and it is demonstrated that the mutation enhances chondrocyte proliferation during the early embryonic skeletal development.
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
A recurrent single point mutation in the FGFR3 gene, located on chromosome 4p, is reported in ten unrelated families with craniosynostosis syndromes.
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis…
Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births and recent evidence suggests that the phenotypic differences may be due to specific alleles with varying degrees of ligand-independent activation, allowing the receptor to be constitutively active.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
A systematic screening of FGFR3 to detect mutations in patients with hypochondroplasia is reported, with a singleFGFR3 mutation found in 8 out of 14 unrelated patients with HypochondroPLasia.