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.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-247707
Responsible library:
WPRO
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>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Molecular Sequence Data
/
Base Sequence
/
Exons
/
Neurofibromatosis 1
/
Point Mutation
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Neurofibromin 1
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Genetics
Limits:
Adult
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Female
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Humans
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Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article