MOLECULAR STUDY CONGENITAL HYPOTHYROIDISM (TITF1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3848

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	29 days
Information:
Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). The clinical spectrum varies from the complete triad of brain-lung-thyroid syndrome (50%), to brain and thyroid disease (30%), or isolated BHC (13%), which is the mildest expression of the syndrome. In addition, the severity of symptoms varies widely, even in families with the same disease-causing mutation. The thyroid form can present with overt or, more commonly, subclinical hypothyroidism / hyper-thyrotropinemia at birth, in infancy or in early childhood. There is significant correlation between thyroid morphology (55% normal, 35% hemiagenesis or hypoplasia, and 10% athyreosis in 46 published cases) and the commonly mild elevation of thyroid-stimulating hormone (TSH). The lung form presents most commonly as IRDS at term, suggestive for congenital surfactant protein deficiency. The neurological form presents during the first year of life with hypotonia and psychomotor delay, which progresses to BHC between 1 and 5 years of age. Non-progressive BHC after the age of 5 years is the most common and specific sign of the syndrome. Additional non-classical symptoms including hypo- or oligodontia, microcephaly, intellectual deficit, failure to thrive, growth retardation, dysmorphism, hypoparathyroidism and malabsorption have been reported only in patients with large deletions on chromosome 14 including the NKX2-1 gene. Mild intellectual deficit may be present in some patients. Brain-lung-thyroid syndrome is caused by mutations in the thyroid transcription factor 1 gene (NKX2-1/TITF1; 14q13.3).
Links:
OMIM Entry - #610978 - CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
Orphanet- Brain lung thyroid syndrome
OMIM Entry - -600635 - NK2 HOMEOBOX 1; NKX2-1

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