Suspected pathogenic mutation identified in two cases with oculocutaneous albinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 509-511, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-288042
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations in genes related with non-syndromic oculocutaneous albinism I-IV and ocular albinism type I in two couples who had given births to children with albinism.</p><p><b>METHODS</b>All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing.</p><p><b>RESULTS</b>For the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c.832C>T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c.346C>T, which was also known to be a pathogenic nonsense mutation.</p><p><b>CONCLUSION</b>The coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Oxidoreductases
/
Pedigree
/
Membrane Glycoproteins
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Exons
/
Albinism, Oculocutaneous
/
Frameshift Mutation
/
Mutation, Missense
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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