Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis.
- VernacularTitle:母血中胎源RASSF1A基因的表达水平对于子痫前期的预测价值
- Author:
Shuwen SUN
1
,
2
;
Xia GUO
;
Yiping ZHU
;
Xue YANG
;
Qiang LI
;
Ju GAO
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA Mutational Analysis; Exons; genetics; Family Health; Female; Genes, Recessive; genetics; Genetic Predisposition to Disease; genetics; Heterozygote; Humans; Lymphohistiocytosis, Hemophagocytic; diagnosis; genetics; Male; Mutation; Pedigree; Perforin; genetics; Phenotype; Polymerase Chain Reaction; Retrospective Studies
- From: Chinese Journal of Medical Genetics 2014;31(5):570-573
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze mutations in a pedigree of familial hemophagocytic lymphohistiocytosis (FHLH) from Sichuan and provide genetic counseling for the family.
METHODSClinical data of a case with FHLH diagnosed at West China Second Hospital was retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Eight candidate genes for primary HLH were amplified with PCR and analyzed by direct sequencing.
RESULTSThe proband was diagnosed as HLH based on clinical manifestations of recurrent fever for 2 months, hepatosplenomegaly, lymphadenopathy, pancytopenia, hyperferritinemia, and decreased fibrinogen and hemophagocytosis in bone marrow. Genetic testing for primary HLH was carried out considering the relapse of illness after hormone therapy for 8 weeks and the family history. The results of gene sequencing showed that the proband has carried compound heterozygous mutations in PRF1 gene (c.1349C> T in exon 3 and c.445G> A in exon 2). His father has carried a heterozygous mutation (c.445G> A in exon 2) and nonsense mutation (c.900C> T in exon 3), and his mother carried a heterozygous mutation (c.1349C> T in exon 3). Both c.1349C> T and c.445G> A have been previously reported as pathogenic mutations.
CONCLUSIONThe family has been diagnosed as familial HLH type 2 based on clinical and laboratory examinations and molecular genetic testing. Gene sequencing has indicated that is was a recessive type familial HLH.