[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor â
ª Deficiency].
Sichuan Da Xue Xue Bao Yi Xue Ban
; 51(2): 252-256, 2020 Mar.
Article
in Zh
| MEDLINE
| ID: mdl-32220196
ABSTRACT
OBJECTIVE:
To analyze the phenotype and genotype in two pedigrees with hereditary coagulation factor â ª (Fâ ª) deficiency, and investigate the molecular mechanisms of Fâ ª deficiency.METHODS:
Two patients with hereditary coagulation Fâ ª deficiency were admitted to Chaozhou Central Hospital in Nov 2014 and Jan 2018. The prothrombin time (PT), activated partial thromboplastin time (APTT), Fâ ª activity (Fâ ªâ¶C) and Fâ ª antigen (Fâ ªâ¶Ag) were tested for phenotypic diagnosis. All the exons and exon-intron boundaries of Fâ ª gene of proband were analyzed by PCR and sequencing. The family members were tested for the mutant site of proband. Then the mRNA of Fâ ª in the proband was analyzed with RT-PCR.RESULTS:
The proband-1 was a 7-year-old boy, PT was 10.7 s and APTT was 97.4 s (reference range 9-12.8 s; 24-40 s), Fâ ªâ¶C (0.6%) and Fâ ªâ¶Ag<1% (reference range 65%-150%; 72.1%-122.3%). The proband-2 was a 30-year-old female, and showed the PT (11.7 s), APTT (71.3 s), Fâ ªâ¶C (0.7%) and Fâ ªâ¶Ag<1%. Fâ §â¶C, Fâ ¨â¶C and Fâ «â¶C of two proband were within the normal range. DNA sequencing showed that the proband-1 had a combined mutation of c.326-1G>A and c.1107C>A (p.Tyr351X) in exon 10. His grandmother, mother and brother had a heterozygous splicing mutation of c.326-1G>A, his grandmother and father had a homozygous mutation of c.1107C>A. FXI mRNA was undetected in the proband-1. The proband-2 had a homozygous mutation of c.841C>T (p.Gln263X) in exon 8, and this mutation was also found in her father, mother, daughter and son.CONCLUSION:
The c.326-1G>A, c.1107C>A(p.Tyr351X) and c.841C>T (p.Gln263X) might be the molecular pathogenesis for two probands with hereditary coagulation factor â ª deficiency.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pedigree
/
Phenotype
/
Factor XI
/
Factor XI Deficiency
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Sichuan Da Xue Xue Bao Yi Xue Ban
Year:
2020
Document type:
Article
Affiliation country:
China