UNLABELLED: A 23-year-old man was diagnosed with pulmonary alveolar proteinosis at the age of 11 months, and primary hypothyroidism gradually developed during infancy. He had delayed developmental milestones and severe hypotonia that evolved into non-progressive chorea during childhood. He died from large cell lung carcinoma at the age of 23 years. A de novo heterozygous insertion mutation 859-860insC in the TITF-1 gene was demonstrated. CONCLUSION: TITF-1 gene mutations should be considered in paediatric and adult patients with unexplained (combinations of) chorea, mental retardation, primary hypothyroidism, and chronic lung disease. Introduction of a name for the disorder, e.g. Brain-Thyroid-Lung syndrome, would probably facilitate further recognition. Whether the TITF-1 gene mutation in this patient predisposed to the development of lung cancer remains speculative.
UNLABELLED: A 23-year-old man was diagnosed with pulmonary alveolar proteinosis at the age of 11 months, and primary hypothyroidism gradually developed during infancy. He had delayed developmental milestones and severe hypotonia that evolved into non-progressive chorea during childhood. He died from large cell lung carcinoma at the age of 23 years. A de novo heterozygous insertion mutation 859-860insC in the TITF-1 gene was demonstrated. CONCLUSION:TITF-1 gene mutations should be considered in paediatric and adult patients with unexplained (combinations of) chorea, mental retardation, primary hypothyroidism, and chronic lung disease. Introduction of a name for the disorder, e.g. Brain-Thyroid-Lung syndrome, would probably facilitate further recognition. Whether the TITF-1 gene mutation in this patient predisposed to the development of lung cancer remains speculative.
Authors: Guido J Breedveld; Jeroen W F van Dongen; Cesare Danesino; Andrea Guala; Alan K Percy; Leon S Dure; Peter Harper; Lazarus P Lazarou; Herma van der Linde; Marijke Joosse; Annette Grüters; Marcy E MacDonald; Bert B A de Vries; Willem Frans M Arts; Ben A Oostra; Heiko Krude; Peter Heutink Journal: Hum Mol Genet Date: 2002-04-15 Impact factor: 6.150
Authors: Aaron Hamvas; Robin R Deterding; Susan E Wert; Frances V White; Megan K Dishop; Danielle N Alfano; Ann C Halbower; Benjamin Planer; Mark J Stephan; Derek A Uchida; Lee D Williames; Jill A Rosenfeld; Robert Roger Lebel; Lisa R Young; F Sessions Cole; Lawrence M Nogee Journal: Chest Date: 2013-09 Impact factor: 9.410
Authors: Csaba Galambos; Hara Levy; Carolyn L Cannon; Sara O Vargas; Lynne M Reid; Robert Cleveland; Robert Lindeman; Daphne E deMello; Susan E Wert; Jeffrey A Whitsett; Antonio R Perez-Atayde; Harry Kozakewich Journal: Am J Respir Crit Care Med Date: 2010-03-04 Impact factor: 21.405
Authors: Geoffrey Kurland; Robin R Deterding; James S Hagood; Lisa R Young; Alan S Brody; Robert G Castile; Sharon Dell; Leland L Fan; Aaron Hamvas; Bettina C Hilman; Claire Langston; Lawrence M Nogee; Gregory J Redding Journal: Am J Respir Crit Care Med Date: 2013-08-01 Impact factor: 21.405