RESUMEN
<p><b>OBJECTIVE</b>To detect gene mutation in proband and his mother from a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.</p><p><b>RESULTS</b>G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.</p>
Asunto(s)
Niño , Femenino , Humanos , Masculino , Secuencia de Bases , Análisis Mutacional de ADN , Mutación , Piebaldismo , Genética , Reacción en Cadena de la Polimerasa , Proteínas Proto-Oncogénicas c-kit , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To detect the gene mutation of a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.</p><p><b>RESULTS</b>G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.</p>