Analysis of TGFBI gene mutation in a pedigree affected with corneal dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 672-674, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-688171
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a large Chinese pedigree affected with congenital corneal dystrophy.</p><p><b>METHODS</b>Two patients from the pedigree were subjected to whole exome sequencing to determine the candidate gene. Suspected mutation was verified in 13 additional members by directional Sanger sequencing. Ccorrelation between genotype and phenotype was explored.</p><p><b>RESULTS</b>A missense mutation, c.1877A>C (p.His626Pro), was detected in exon 14 of the TGFBI gene in 8 patients from the pedigree, but not in five unaffected members and 100 unrelated healthy controls. Respectively, the mutation was predicted as "affecting protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and MutationTaster.</p><p><b>CONCLUSION</b>The c.1877A>C mutation of the TGFBI gene probably underlies the disease in this pedigree.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Artículo
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