Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 646-649, 2017.
Article
en Zh
| WPRIM
| ID: wpr-344205
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).</p><p><b>METHODS</b>Genomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation.</p><p><b>RESULTS</b>NTRK1 gene analysis revealed that proband has carried a c.1786C>T (p.Arg596*) nonsense mutation inherited from her mother and a novel deletional mutation c.1928-2028+23del from her father. Her elder brother only carried the deletional mutation.</p><p><b>CONCLUSION</b>The diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.</p>
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Índice:
WPRIM
Asunto principal:
Análisis Mutacional de ADN
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Neuropatías Hereditarias Sensoriales y Autónomas
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Exones
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Receptor trkA
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Diagnóstico
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Genética
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Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Article