Factor X Deficiency Due to a Compound Heterozygosis Between a New Mutation (Gla72Asp) in Exon 2 and an Already Known one (Gly154Arg) in Exon 5: Factor X Mar Del Plata1)

2019 ◽  
Vol 19 (2) ◽  
pp. 169-173
Author(s):  
Antonio Girolami ◽  
Diana Noemi Garcia de Paoletti ◽  
Marcelo Leonardo Nenkies ◽  
Silvia Ferrari ◽  
Hugo Guglielmone
Keyword(s):  
Bleeding Tendency ◽  
Bleeding Disorders ◽  
Factor X ◽  
Substitution Therapy ◽  
New Mutation ◽  
Exon 2 ◽  
The Third ◽  
The Past ◽  
Factor X Deficiency ◽  
The Family

Background: Investigation of rare bleeding disorders in Latin-America. Objective: The report of a new case of FX deficiency due to a compound heterozygosis. Methods: Accepted clotting procedures were used. Sequencing of DNA was carried out by means of Applied Biosystems Instruments. Results: A compound heterozygote due to the association of a new mutation (Gla72Asp) with an already known mutation (Gly154Arg) of the FX gene is reported. The proposita is a 38 year old female who had a moderate bleeding tendency (menorrhagia, epistaxis, easy bruising). The proposita has never received substitution therapy but in the occasion of a uterine biopsy. The mother was asymptomatic but was a heterozygote for the new mutation. The father was asymptomatic but had deserted the family and could not be investigated. After this abandonment the mother of the proposita re-married with an asymptomatic man and she gave birth to a son who was asymptomatic but was also heterozygous for the new mutation (Gla72Asp). As a consequence it has to be assumed that the first husband of the mother of the proposita was heterozygous for the known mutation (Gly154Arg). Conclusion: This is the third case of a new mutation in the FX gene reported, during the past few years, in Argentina.

scholarly journals A new mutation at exon 2 of hprt1 locus causing Lesch-Nyhan Syndrome.

2015 ◽  
Vol 3 (1) ◽  
pp. 18-21
Author(s):  
Adriana María Gil Zapata ◽  
Adriana Castillo Pico ◽  
Leonor Gusmão ◽  
António Amorim ◽  
Fernando Rodríguez Sanabria
Keyword(s):  
Genetic Counseling ◽  
Inborn Error ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Dna Fragments ◽  
Hprt Gene ◽  
New Mutation ◽  
Exon 2 ◽  
The Family ◽  
Hypoxanthine Guanine Phosphoribosyl Transferase

Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural disturbances. In the present work, we report the results of the study of a Colombian family, where LNS was previously clinically and biochemically diagnosed. Material and Methods: The full HPRT gene, including 9 exons and 8 introns, was amplified on eight separate DNA fragments. Both strands, forward and reverse, of the amplified DNA fragments were analyzed and the obtained sequences were compared with those deposited at National Center for Biotechnology Information. Results and conclusions: Sequence analysis allowed the detection of new LNS causing mutation, an adenine deletion in exon 2 of HPRT1 gene resulting in a frameshift which determines a premature stop codon. This study, besides adding a new mutation to the already large spectrum of disease causing variation at HPRT, allows therefore providing genetic counseling for the family as well as prenatal diagnosis.

Acquired Factor X (Stuart Factor) Deficiency in a Patient with Mycoplasma Pneumonial Infection

1979 ◽  
Author(s):  
F Peuscher ◽  
W van Aken ◽  
A Swaak ◽  
L Sie ◽  
L Statius van Eps
Keyword(s):  
Prothrombin Complex Concentrate ◽  
Influence Factor ◽  
Systemic Amyloidosis ◽  
Bleeding Tendency ◽  
Factor X ◽  
Factor X Deficiency ◽  
Factor Deficiency ◽  
Fresh Plasma ◽  
La Jolla ◽  
Affect Factor

An isolated deficiency of factor X is known to occur in a hereditary form, the Stuart-Prower disease, and in an acquired form in some patients with para-proteinaemia and sporadically in systemic amyloidosis. Transient deficiency of factor X in the presence of normal levels of factors II, VII and V appears to be rare. In the literature, only three cases have been described. We have studied a patient with a severe haemorrhagic diathesis and concomitant mycoplasma pneumonial infection. The bleeding tendency proved to be due to isolated factor X deficiency. No circulating inhibitors of factor X were present. Systemic amyloidosis could not be demonstrated. Factor X-related antigen could not be detected (this test was kindly performed by Dr.Daryl S.Fair, Scripps Clinic and Research Foundation, La Jolla, U.S.A.). Treatment with vitamin K, prothrombin complex concentrate, fresh plasma and whole blood proved not to influence factor X activity in the patient’s plasma. However, 20 days after admission⋅to hospital both factor X activity and antigen spontaneously returned to normal. These results suggest that the synthesis of factor X was transiently defective. Since other conditions known to affect factor X activity could not be demonstrated, it is postulated that the acquired factor X deficiency in this patient was related to the infection with mycoplasma pneumoniae.

Blood Coagulation Factor X Deficiency Causes Partial Embryonic Lethality and Fatal Neonatal Bleeding in Mice

2000 ◽  
Vol 83 (02) ◽  
pp. 185-190 ◽  
Author(s):  
Mieke Dewerchin ◽  
Zhong Liang ◽  
Lieve Moons ◽  
Peter Carmeliet ◽  
Francis Castellino ◽  
...  
Keyword(s):  
Blood Coagulation ◽  
Coagulation Factor ◽  
Massive Bleeding ◽  
Embryonic Lethality ◽  
Genotype Distribution ◽  
Bleeding Disorders ◽  
Factor X ◽  
Factor X Deficiency ◽  
Effective Models ◽  
The Brain

SummaryMice with a total deficiency in blood coagulation Factor X (FX) were generated by targeted replacement of an 18-kb fragment of the FX gene, comprising all exons encoding the mature FX protein, with a neor cassette. The genotype distribution among the offspring from heterozygous breeding pairs suggested that FX deficiency resulted in partial embryonic lethality, with approximately one-third of the FX −/− embryos dying around embryonic day (E) 11.5-12.5. Two of 44 non-resorbed FX −/− embryos analyzed at these stages showed signs of massive bleeding, one of which into the brain ventricles, but no histological defects in the vasculature of these embryos or their yolk sac were observed. The remainder of the FX −/− embryos appeared normal and survived to term, but the majority of neonates (90%) died within 5 days, most frequently from intraabdominal bleeding. The remaining FX −/− animals succumbed between postnatal day (P)5 and P20 with intraabdominal, subcutaneous, or intracranial bleeding or a combination thereof. The lethal phenotype of the FX −/− mice illustrates the importance of FX function in embryonic and postnatal survival and demonstrates that these mice serve as effective models of the bleeding disorders observed in severe FX deficiency in humans.

The Heterogeneity of Congenital factor X deficiency. A study of two unrelated patients

1979 ◽  
Author(s):  
N.R. Porter ◽  
R.G. Malia ◽  
P.C. Cooper ◽  
F.E. Preston
Keyword(s):  
Prothrombin Time ◽  
Gastrointestinal Haemorrhage ◽  
Factor X ◽  
Prolonged Prothrombin Time ◽  
Factor X Deficiency ◽  
The Family ◽  
Rate Of Decline ◽  
Consanguinous Marriage ◽  
Caucasian Female ◽  
Congenital Factor

Two unrelated patients with congenital factor X deficiency are described. R.N. a four year old Pakistani child of consanguinous marriage presented with gastrointestinal haemorrhage. Routine tests of coagulation revealed a grossly prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by three unrelated methods, was < 1%. Factor X related antigen (FXRAg) measured by antibody neutralisation was undetectable. In other, less affected members of the family FXC/FXRAg = 1 An infusion of factor X concentrate raised the factor X to 140%. The rate of decline was biphasic with an initial rapid component, T½ = 4 hours, and a slower second component T½ = 33 hours. The second patient, P.P. a Caucasian female presented with persistent post-dental extraction haemorrhage. Routine tests of coagulation revealed a prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by two unrelated methods was 20 - 32% (normal 58- 134%) FXRAg was 71% (normal 60 - 120%). FXC/FXRAg = 0.35. Similar ratios were obtained on three other affected members of the family. The ratio represents an Important difference between the two families. Studies using the modified thrombotest strongly suggest an abnormal molecular complex in P.P. The results provide further evidence of the heterogenity of factor X deficiency states.

Acquired Factor X (Stuart Factor) Deficiency in a Patient with Mycoplasma Pneumonial Infection

1979 ◽  
Author(s):  
F.W. Peuscher ◽  
W.G. van Aken ◽  
A.J.G. Swaak ◽  
L.H. Sie ◽  
L.W. Statius van Eps
Keyword(s):  
Prothrombin Complex Concentrate ◽  
Influence Factor ◽  
Systemic Amyloidosis ◽  
Bleeding Tendency ◽  
Factor X ◽  
Severe Haemorrhage ◽  
Factor X Deficiency ◽  
Factor Deficiency ◽  
La Jolla ◽  
Affect Factor

An isolated deficiency of factor X is known to occur in a hereditary form, the Stuart-Prower disease, and in an acquired form in some patients with para-proteinaemia and sporadically in systemic amyloidosis. Transient deficiency of factor X In the presence of normal levels of factors II, VII and V appears to be rare. In the literature, only three cases have been described. We have studied a patient with a severe haemorrhage diathesis and concomitant mycoplasma pneumonlal infection. The bleeding tendency proved to be due to isolated factor X deficiency. No circulating inhibitors of factor X were present. Systemic amyloidosis could not be demonstrated. Factor X-related antigen could not be detected (this test was kindly performed by Dr. Daryl S. Fair, Scripps Clinic and Research Foundation, La Jolla, U.S.A.). Treatment with vitamin K, prothrombin complex concentrate, fresi plasma and whole blood proved not to influence factor X activity in the patient’s Plasma. However, 20 days after admission·to hospital both factor X activity and antigen spontaneously returned to normal. These results suggest that the synthesis of factor X was transiently defective. Since other conditions known to affect factor X activity could not be demonstrated, it is postulated that the acquired factor X deficiency in this patient was related to the infection with mycoplasma pneumoniae.

Life-threatening bleeding tendency provoked by an acquired isolated factor X deficiency associated with respiratory infection

2013 ◽  
Vol 92 (10) ◽  
pp. 1437-1438 ◽  
Author(s):  
L. Coucke ◽  
S. Trenson ◽  
D. Deeren ◽  
I. Van haute ◽  
K. Devreese
Keyword(s):  
Respiratory Infection ◽  
Bleeding Tendency ◽  
Factor X ◽  
Factor X Deficiency ◽  
Life Threatening

The Heterogeneity of Congenital factor X deficiency

1979 ◽  
Author(s):  
N Porter ◽  
R Malia ◽  
P Cooper ◽  
F Preston
Keyword(s):  
Prothrombin Time ◽  
Gastrointestinal Haemorrhage ◽  
Factor X ◽  
Prolonged Prothrombin Time ◽  
Factor X Deficiency ◽  
The Family ◽  
Rate Of Decline ◽  
Consanguinous Marriage ◽  
Caucasian Female ◽  
Congenital Factor

Two unrelated patients with congenital factor X deficiency are described. R.N. a four year old Pakistani child of consanguinous marriage presented with gastrointestinal haemorrhage. Routine tests of coagulation revealed a grossly prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by three unrelated methods, was < 1%. Factor X related antigen (FXRAg) measured by antibody neutralisation was undetectable. In other, less affected members of the family FXC/FXRAg = 1 An infusion of factor X concentrate raised the factor X to 140%. The rate of decline was biphasic with an initial rapid component, T½ = 4 hours, and a slower second component T½ = 33 hours. The second patient, P.P. a Caucasian female presented with persistent post-dental extraction haemorrhage. Routine tests of coagulation revealed a prolonged prothrombin time and KCCT. All factor assays, other than factor X, were normal. Factor X, measured by two unrelated methods was 20 - 32% (normal 58 - 134%) FXRAg was 71% (normal 60 - 120%). FXC/FXRAg = 0.35. Similar ratios were obtained on three other affected members of the family. The ratio represents an important difference between the two families. Studies using the modified thrombotest strongly suggest an abnormal molecular complex in P.P. The results provide further evidence of the heterogenity of factor X deficiency states.

scholarly journals Acquired Factor X Deficiency in a Patient with Amyloidosis

1962 ◽  
Vol 07 (03) ◽  
pp. 558-566 ◽  
Author(s):  
Kristoffer Korsan-Bengtsen ◽  
Peter F Hjort ◽  
Johan Ygge
Keyword(s):  
Bleeding Tendency ◽  
Factor X ◽  
Factor X Deficiency ◽  
Fresh Plasma

SummaryA patient with extensive amyloidosis and a selective factor X deficiency is described. The following observations indicate that the factor X deficiency in this case is not inherited.1. The first symptoms of a bleeding tendency appeared at an age of 50 years.2. The patient’s four children had no clotting defect.3. After infusion of 1 liter of fresh plasma no increased factor X activity was observed. No anticoagulants could be demonstrated in vitro.

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