Analysis of clinical characteristics and genetic mutation in a pedigree affected with Chediak-Higashi syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 188-192, 2018.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-687981
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic basis for a pedigree affected with Chediak-Higashi syndrome (CHS).</p><p><b>METHODS</b>Clinical data of two CHS patients from the pedigree was collected and analyzed. Targeted next generation sequencing and Sanger sequencing were conducted to detect potential mutation of the LYST gene.</p><p><b>RESULTS</b>Both patients presented immunodeficiency, oculocutaneous albinism, and acidophilic inclusion body on bone marrow and blood smears. A homozygous c.6077_6078insA (p.Tyr2026Terfs) mutation was detected in the LYST gene in both patients.</p><p><b>CONCLUSION</b>Genetic testing can play an important role in the diagnosis of CHS.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Chediak-Higashi Syndrome
/
Genetic Testing
/
Vesicular Transport Proteins
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Infant
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2018
Document type:
Article