Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation

Amir Glik, Isabelle Vuillaume, David Devos, Rivka Inzelberg

Research output: Contribution to journalArticlepeer-review

Abstract

Benign hereditary chorea (BHC) is a rare autosomal dominant nonprogressive movement disorder. In some cases the phenotype includes, besides choreoathetosis, thyroid dysfunction and pulmonary infections in infancy, as expressed by the name "Brain-Thyroid-Lung syndrome". Mutations in the thyroid transcription factor-1 (TITF-1) gene have been identi.ed in some BHC families. We present the phenotypic features of a family with chorea, hypothyroidism, and lung dysfunction. All affected individuals suffered from a nonprogressive chorea with infancy onset. All showed short stature and some webbed neck. One patient suffered from psychosis at the age of 27 years another from lung carcinoma. In all affected individuals, a novel mutation consisting of heterozygous C to A substitution at position 650 of the coding sequence of the TITF-1 gene, exon 3 was detected, leading to a premature stop at codon 217 (S217X). We describe the unique phenotypic features and intrafamilial variability expressing this novel mutation.

Original languageEnglish
Pages (from-to)1744-1747
Number of pages4
JournalMovement Disorders
Volume23
Issue number12
DOIs
StatePublished - 15 Sep 2008
Externally publishedYes

Keywords

  • Benign hereditary chorea
  • Brain-thyroid-lung
  • Chorea
  • TITF-1
  • Thyroid

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