New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contigous genes

Movement Disorders

Volumn 21, Issue 12, 2006, Pages 2237-2240

  Devos, David ^a,d   Vuillaume, Isabelle ^b   de Becdelievre, Alix ^b   de Martinville, Berengère ^c   Dhaenens, Claire Marie ^b   Cuvellier, Jean Christophe ^b   Cuisset, Jean Marie ^b   Vallée, Louis ^b   Lemaitre, Marie Pierre ^b   Bourteel, Hélène ^a   Hachulla, Eric ^b   Wallaert, Benoit ^b   Destée, Alain ^a   Defebvre, Luc ^a   Sablonnière, Bernard ^b  

^a Movement Disorder Unit   (France)

^b UNIV LILLE   (France)

^c Hôpital J de Flandres   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Benign hereditary chorea; Brain thyroid lung syndrome; Movement disorders; PAX gene; TITF 1 gene

Indexed keywords

CORTICOSTEROID; LEVOTHYROXINE; PROTEIN TITF 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PAX9; UNCLASSIFIED DRUG;

ARTICLE; BASAL GANGLION; CASE REPORT; CHILDHOOD DISEASE; CHROMOSOME 14; CHROMOSOME DELETION; CLINICAL FEATURE; CONTROLLED STUDY; DIARRHEA; DISEASE ASSOCIATION; ENTEROPATHY; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUNTINGTON CHOREA; INTERSTITIAL LUNG DISEASE; LUNG DISEASE; MALABSORPTION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OSTEOPOROSIS; PRIORITY JOURNAL; SALIVARY GLAND DISEASE; SEQUENCE ANALYSIS; THYROID DISEASE; TOOTH DISEASE;

EID: 33846431982     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21135     Document Type: Article

References (15)

1. Schrag A, Quinn NP, Bhatia KP, Marsden CD. Benign hereditary chorea-entity or syndrome? Mov Disord 2000;15:280-288.
2. Chun RW, Daly RF, Mansheim BJ Jr, Wolcott GJ. Benign familial chorea with onset in childhood. JAMA 1973;225:1603-1607.
3. Breedveld GJ, Percy AK, MacDonald ME, et al. Clinical and genetic heterogeneity in benign hereditary chorea. Neurology 2002;59:579-584.
4. Willemsen MA, Breedveld GJ, Wouda S, et al. Brain-thyroid-lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in factor 1 gene. Eur J Pediatr 2005;164:28-30.
5. Iwatani N, Mahe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-I in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000; 137:272-276.
6. Krude H, Schutz B, Biebermann H, et al. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. J Clin Invest 2002;109:475-480.
7. Devriendt K, Vanhole C, Matthijs G, de Zegher F. Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 1998:338: 1317-1318.
8. Pohlenz J, Dumitrescu A, Zundel D, et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice. J Clin Invest 2002;109:469-473.
9. Doyle DA, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 2004; 145:190-193.
10. Asmus F, Horber V, Pohlenz J, et al. A novel TITF-1 mutation causes benign hereditary chorea. with response to levodopa. Neurology 2005;64:1952-1954.
11. Kleiner- Fisman G, Rogaeva E, Halliday W, et al. Benign hereditary chorea: clinical, genetic, and pathological findings. Ann Neurol 2003;54:244-247.
12. Breedveld G, Van Dongen JWF, Danesino C, et al. Mutations in TIFT1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11:971-979.
13. Kamnasaran D, Gerritsen JA, McLeod DR, Cox DW. Features within the holoprosencephaly spectrum in sibs with a Robertsonian (14q;22q) translocation chromosome. Clin Genet 2001;60:237-239.
14. Das P, Stockton DW, Bauer C, et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 2002; 110:371-376.
15. Brand T, Andree B, Schneider A, Buchberger A, Arnold HH. Chicken NKX2- 8, a novel homeobox gene ex pressed during early heart and foregut development. Mech Dev 1997;64:53-59.