Molecular analysis of two pediatric cases with sporadic neurofibromatosis type 1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 200-202, 2016.
Artículo
en Chino
| WPRIM
| ID: wpr-247707
ABSTRACT
<p><b>OBJECTIVE</b>To report on two children manifesting multiple cafe-au-lait spots suspected as neurofibromatosis type 1, and perform NF1 gene mutation analysis.</p><p><b>METHODS</b>Blood samples were collected from the 2 children, their unaffected parents and 100 normal controls. The entire coding region of the NF1 gene was amplified by PCR and subjected to direct sequencing.</p><p><b>RESULTS</b>In patient 1, a novel frameshift mutation c.1948delT (p.Leu650TyrfsX38) was identified in exon 12 of the NF1 gene. And in patient 2, a previously reported nonsense mutation c.541C>T (p.Gln181X) was revealed in exon 4b. The same mutations were not detected in their unaffected parents or 100 normal controls.</p><p><b>CONCLUSION</b>The two patients were diagnosed with neurofibromatosis type 1 by molecular genetic testing. The pathogenic mutations were c.1948delT and c.541C>T, respectively.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Exones
/
Neurofibromatosis 1
/
Mutación Puntual
/
Neurofibromina 1
/
Genética
Límite:
Adulto
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2016
Tipo del documento:
Artículo
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