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.
Article
in Chinese
| 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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oxidoreductases
/
Parents
/
Membrane Glycoproteins
/
Base Sequence
/
Family Health
/
Albinism, Oculocutaneous
/
Amino Acid Sequence
/
Diagnosis
/
High-Throughput Nucleotide Sequencing
/
Exome
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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