ReviewCerebellum (London, England)2014
A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.
Review in Cerebellum (London, England), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.PloS one · 2024Pooled it
- Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up.PloS one · 2024Pooled it
- International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2024Review
- Topographical distribution and prevalence of basal duct-like recess sign in a cohort of Papillary Craniopharyngioma-novel findings and implications.Neuroradiology · 2024Article
- Persisting embryonal infundibular recess in a case of TITF-1 gene mutation.Neuroradiology · 2022Article
- Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.Neurogenetics · 2022Article
- Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.The Journal of clinical endocrinology and metabolism · 2021Article
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- The Homeodomain Transcription Factor NKX2.1 Is Essential for the Early Specification of Melanocortin Neuron Identity and ActivatesThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused byMovement disorders clinical practice · 2019Article
- A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.Molecular medicine reports · 2018Article
- A Methylome-Wide Association Study of Trajectories of Oppositional Defiant Behaviors and Biological Overlap With Attention Deficit Hyperactivity Disorder.Child development · 2018Article
- Mutations in the thyroid transcription factor gene NKX2-1 result in decreased expression of SFTPB and SFTPC.Pediatric research · 2018Article
- NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.Frontiers in genetics · 2018Article
- Resistance to thyrotropin.Best practice & research. Clinical endocrinology & metabolism · 2017Review
- Murine hypothalamic destruction with vascular cell apoptosis subsequent to combined administration of human papilloma virus vaccine and pertussis toxin.Scientific reports · 2016Article
- Recent advances in genetics of chorea.Current opinion in neurology · 2016Review
- Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.Neurology. Genetics · 2016Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Benign hereditary chorea (BHC) is a rare autosomal dominant condition characterized by early onset, non-progressive chorea, usually caused by mutations in the thyroid transcription factor-1 gene (TITF1). We describe a novel mutation arising de novo in a proband presenting in infancy with delayed walking and ataxia. She later developed chorea, then hypothyroidism and a large cystic pituitary mass. Her daughter presented in infancy with delayed walking and ataxia and went on to develop non-progressive chorea and a hormonally inactive cystic pituitary mass. Mutational analysis of the whole coding region of the TITF1 gene was undertaken and compared with a population study of 160 control subjects. This showed that both affected subjects have a heterozygous A > T substitution at nucleotide 727 of the TITF1 gene changing lysine to a stop codon at residue 211. Genetic analysis of parents and siblings of the proband confirmed that the mutation arose de novo in the proband. The mutated lysine is an evolutionarily highly conserved amino acid in the protein homoeodomain (HD) where most point mutations associated with BHC are located. The range of mutations in BHC is reviewed with particular emphasis on pituitary abnormalities. Cystic pituitary masses and abnormalities of the sella turcica are reported in just 6.4 % of published cases. This is a new nonsense mutation associated with ataxia, benign chorea and pituitary abnormalities which further extends the phenotype of this condition. Mutational screening of TITF1 is important in cases of sporadic or dominant juvenile-onset ataxia, with mild chorea where no other cause is found, particularly if pituitary abnormalities are seen on imaging.
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Registered trials
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