Molecular analysis and clinical findings of Griscelli syndrome patients.
J Pediatr Hematol Oncol
; 34(7): 541-4, 2012 Oct.
Article
de En
| MEDLINE
| ID: mdl-22983416
ABSTRACT
Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2 cases, deletion of 5 bases (514delCAAGC) in 2 cases, and 1 base deletion (148delA) in 2 cases were detected. This report has importance in phenotype-genotype correlation of different types of mutations including missense mutations and deletions within the RAB27A gene in GSII syndrome.
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Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Piébaldisme
/
Protéines G rab
/
Déficits immunitaires
/
Mutation
Type d'étude:
Diagnostic_studies
Limites:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Langue:
En
Journal:
J Pediatr Hematol Oncol
Sujet du journal:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Année:
2012
Type de document:
Article
Pays d'affiliation:
Turquie