Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 73-77, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-345321
ABSTRACT
<p><b>OBJECTIVE</b>To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism.</p><p><b>METHODS</b>The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation exome capture sequencing. The nature and impact of detected mutation were predicted and validated.</p><p><b>RESULTS</b>The child has displayed strabismus, poor vision, nystagmus and brown hair. DNA sequencing showed that the patient has carried compound heterozygous mutations of the TYRP1 gene, namely c.1214C>A (p.T405N) and c.1333dupG, which were inherited from his mother and father, respectively. Neither mutation was reported previously.</p><p><b>CONCLUSION</b>The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Oxirredutases
/
Pais
/
Glicoproteínas de Membrana
/
Sequência de Bases
/
Saúde da Família
/
Albinismo Oculocutâneo
/
Sequência de Aminoácidos
/
Diagnóstico
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Exoma
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo
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