Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2017
[Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing].
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Lyu Yuqiang, Huang Jing, Zhang Kaihui, Liu Guohua, Gao Min, Gai Zhongtao, Liu Yi
Аннотация
OBJECTIVE: To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism.
METHODS: 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.
RESULTS: 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.
CONCLUSION: The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.
METHODS: 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.
RESULTS: 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.
CONCLUSION: The child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.