Arthrogryposis
Gene: TTN
By Sanger sequencing the TTN gene in 31 patients from 23 families segregating congenital core myopathy and primary heart disease, Chauveau et al. (2014) identified homozygous or compound heterozygous mutations in 5 patients from 4 families. The severity of the phenotype varied among the families. All 5 patients had congenital or infantile muscle weakness with axial and distal joint contractures and relatively preserved respiratory function. One individual presented with arthrogryposis, dislocated hips with dysplasia, and elbow, hip, and knee contractures.
Bryen et al: eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (c.39974-11T>G), inherited in trans with a second pathogenic TTN variant.
Two families with AMC and biallelic truncating mutations in 29575618; 28040389.Created: 27 Nov 2019, 12:35 p.m. | Last Modified: 28 Nov 2019, 4:30 p.m.
Panel Version: 2.101
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salih myopathy; Muscular dystrophy, limb-girdle, autosomal recessive 10
Publications
Comment on mode of inheritance: With agreement from Zerin Hyder, changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' to match MOI on 'Neuromuscular arthrogryposis' panel V0.21 and review on DDG2P panel by Lucy Raymond.Created: 26 Nov 2019, 1:19 p.m. | Last Modified: 29 Nov 2019, 12:57 p.m.
Panel Version: 2.101
Upgraded TTN from Red to Green. TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: "Biallelic LOF are congenital titinopathy with arthrogryposis". There is a second case from 2017 (PMID:28040389) and 8 more families in PMID:31660661. TTN is also Green on the 'Neuromuscular arthrogryposis' panel V0.21.Created: 26 Nov 2019, 1:15 p.m. | Last Modified: 26 Nov 2019, 1:15 p.m.
Panel Version: 2.47
Arthrogryposis only reported in one patients with biallelic TTN mutationsCreated: 22 Dec 2016, 2:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
core myopathy with heart disease
Publications
Publications for gene: TTN were set to 24105469; 28040389; 31660661
Gene: ttn has been classified as Green List (High Evidence).
Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: TTN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TTN were changed from Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease to Congenital titinopathy with arthrogryposis; Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive); core myopathy with heart disease
Publications for gene: TTN were set to 24105469
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
Phenotypes for TTN were set to ; Hereditary Myopathy with Early Respiratory Failure; Cardiomyopathy, familial hypertrophic, 9, 613765; Hereditary Myopathy with Early Respiratory Failure (dominant); Udd Distal Myopathy (Dominant); Salih Myopathy (recessive);core myopathy with heart disease
Publications for TTN were set to 24105469
Publications for TTN were set to 24105469
This gene has been classified as Red List (Low Evidence).
TTN was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services TTN was added to Arthrogryposispanel. Source: UKGTN TTN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen TTN was added to Arthrogryposispanel. Source: Expert
TTN was created by ellenmcdonagh
TTN was added to Arthrogryposispanel. Sources: Expert list