NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients.
J Pediatr Endocrinol Metab
; 27(3-4): 373-8, 2014 Mar.
Article
en En
| MEDLINE
| ID: mdl-24129101
Brain-lung-thyroid syndrome (BLTS) characterized by congenital hypothyroidism, respiratory distress syndrome, and benign hereditary chorea is caused by thyroid transcription factor 1 (NKX2-1/TTF1) mutations. We report the clinical and molecular characteristics of four cases presenting with primary hypothyroidism, respiratory distress, and neurological disorder. Two of the four patients presenting with the triad of BLTS had NKX2-1 mutations, and one of these NKX2-1 [c.890_896del (p.Ala327Glyfs*52)] is a novel variant. The third patient without any identified NKX2-1 mutations was a carrier of mitochondrial mutation; this raises the possibility of mitochondrial mutations contributing to thyroid dysgenesis. Although rare, the triad of congenital hypothyroidism, neurological, and respiratory signs is highly suggestive of NKX2-1 anomalies. Screening for NKX2-1 mutations in patients with thyroid, lung, and neurological abnormalities will enable a unifying diagnosis and genetic counseling for the affected families. In addition, identification of an NKX2-1 defect would be helpful in allaying the concerns about inadequate thyroxine supplementation as the cause of neurological defects observed in some children with congenital hypothyroidism.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Dificultad Respiratoria del Recién Nacido
/
Atetosis
/
Factores de Transcripción
/
Proteínas Nucleares
/
Corea
/
Hipotiroidismo Congénito
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2014
Tipo del documento:
Article
Pais de publicación:
Alemania