Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family

Sun, Liwei; Yan, Qijiang; Wang, Yonghua; Luo, Hualei; Hassan, Reem N; Liu, Li

doi:10.1080/10245332.2017.1422315

Cited by 6 publications

(5 citation statements)

References 30 publications

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“…The FXIII level of this patient was less than 5% after which the parents terminated the pregnancy [30]. Previous studies have reported PND for FXIII deficiency, using invasive methods, such as amniocentesis and CVS [31,32]. The only report of PND for FXIII deficiency in Iran was published by Naderi et al in 2016 using CVS samples from eight fetuses.…”

Section: Discussionmentioning

confidence: 76%

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Motlagh

Dorgalaleh²,

Tabibian³

et al. 2022

Blood Coagulation &Amp; Fibrinolysis

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Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency that is inherited in an autosomal recessive manner. FXIII deficiency presents various clinical manifestations, such as intracranial hemorrhage (ICH), which is the most common cause of morbidity and mortality. As ICH can occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and its associated fatal consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA), for PND in FXIII deficiency. This study was conducted on seven pregnant women in the first trimester. After extraction of cffDNA from maternal plasma, PCR-restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in the family members. PCR-RFLP was also performed on postnatal DNA samples. Sanger sequencing was performed to confirm the results. Four cases were heterozygous for F13A gene mutations, whereas three were unaffected. PCR-RFLP results for cffDNA and postnatal DNA samples were identical, and Sanger sequencing confirmed the results. cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency. Blood Coagul Fibrinolysis

show abstract

Section: Discussionmentioning

confidence: 76%

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Motlagh

Dorgalaleh²,

Tabibian³

et al. 2022

Blood Coagulation &Amp; Fibrinolysis

View full text Add to dashboard Cite

show abstract

“…That subject's FXIII level was shown to be below 5%; consequently the parents terminated the pregnancy (30). PND for FXIIID, using invasive methods such as amniocentesis and CVS, has been reported in previous studies (31,32). The only report of PND for FXIIID in Iran was published by Naderi et al in 2016 on the CVS samples of 8 fetuses.…”

Section: Discussionmentioning

confidence: 94%

Prenatal Diagnosis of Congenital Factor XIII Deficiency Using Cell-Free Fetal DNA (cffDNA)

Motlagh¹,

Dorgalaleh²,

Tabibian³

et al. 2020

Preprint

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Background: Congenital factor (F) XIII deficiency is a rare coagulation factor deficiency transmitted in an autosomal recessive manner. FXIII deficiency presents different clinical manifestations including intracranial hemorrhage (ICH), the most common cause of morbidity and mortality. Since ICH may occur in the neonatal period, prenatal diagnosis (PND) is an effective way to reduce neonatal ICH and related consequences. In this study, we investigated a noninvasive prenatal diagnosis (NIPD) method, cell-free fetal DNA (cffDNA) for PND in FXIII deficiency. Method: This study was conducted on 7 pregnant women in their first trimester. After extraction of cffDNA from maternal plasma, polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was performed to find the underlying F13A gene mutations previously identified in family members. PCR-RFLP also was carried out on post-natal DNA samples. Sanger sequencing was used to confirm the results.Results: PCR-RFLP results for cffDNA and post-natal DNA samples were identical, with Sanger sequencing confirming the results. Four cases were heterozygote for F13A gene mutations, while 3 were unaffected. Conclusion: cffDNA is a noninvasive and effective method for PND in congenital FXIII deficiency.

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“…It is the first cause of death in these patients. Finally, the study's laboratory results a significant relationship between the increase in MMP-9 gene expression and the pathogenesis of intracranial bleeding (18). In the central nervous system, it has been shown that matrix metalloproteinases 9 and 2 (gelatinases) cause the breakdown of basal lamina components, secondarily leading to the destruction of the blood-brain barrier (19).…”

Section: Discussionmentioning

confidence: 94%

proteoglyThe role of different matrixin gene expressions on cerebral bleeding among patients with deficiency of coagulation factor XIII

Mei¹,

Huang²,

Jia³

et al. 2022

Cell Mol Biol (Noisy-le-grand)

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Pathogenicity analysis of variations and prenatal diagnosis in a hereditary coagulation factor XIII deficiency family

Abstract: We first established the PND procedure with pathogenicity assessment in FXIIID patients. The F13A gene mutations' spectrum of the Chinese Han population was enriched.

Cited by 6 publications

References 30 publications

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

Prenatal Diagnosis of Congenital Factor XIII Deficiency Using Cell-Free Fetal DNA (cffDNA)

proteoglyThe role of different matrixin gene expressions on cerebral bleeding among patients with deficiency of coagulation factor XIII

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