Diagnosis of a case with oculocutaneous albinism type Ⅲ with next generation exome capture sequencing.
- VernacularTitle:用新一代外显子捕获测序技术诊断眼皮肤白化病Ⅲ型一例
- Author:
Yuqiang LYU
1
;
Jing HUANG
;
Kaihui ZHANG
;
Guohua LIU
;
Min GAO
;
Zhongtao GAI
;
Yi LIU
Author Information
- Publication Type:Case Reports
- MeSH: Albinism, Oculocutaneous; diagnosis; genetics; Amino Acid Sequence; Base Sequence; Child, Preschool; Exome; genetics; Family Health; Female; Heterozygote; High-Throughput Nucleotide Sequencing; methods; Humans; Male; Membrane Glycoproteins; genetics; Mutation; Oxidoreductases; genetics; Parents
- From: Chinese Journal of Medical Genetics 2017;34(1):73-77
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism.
METHODSThe 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.
RESULTSThe 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.
CONCLUSIONThe child has suffered from oculocutaneous albinism type Ⅲ caused by mutations of the TYRP1 gene.
