Identification of a novel CHS1/LYST variant in a Chinese pedigree affected with Chediak-Higashi syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 441-444, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-828305
ABSTRACT
OBJECTIVE@#To detect pathological variant in two patients with Chediak-Higashi syndrome (CHS) from a consanguineous family and to explore its genotype-phenotype correlation.@*METHODS@#Clinical data was collected for this pedigree. Genomic DNA was prepared from probands' peripheral leukocytes and their relatives' fingernail. Whole exome sequencing and Sanger sequencing were carried out to detect potential variant of the LYST gene.@*RESULTS@#The proband presented with partial oculocutaneous albinism, immunodeficiency and acidophilic inclusion body in bone marrow and blood smears. A novel homozygous nonsense variant c.8782C>T (p.Gln2928*) was identified in exon 34 of the LYST gene in the sib pair. The same variant was found to be in heterozygous status in 6 unaffected individuals from the pedigree.@*CONCLUSION@#Above result enriched the mutational spectrum of CHS and provided a basis for genetic counseling and prenatal diagnosis for this pedigree.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Síndrome de Chediak-Higashi
/
Exones
/
Análisis de Secuencia de ADN
/
Proteínas de Transporte Vesicular
/
Secuenciación del Exoma
/
Genética
/
Heterocigoto
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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