Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature

Table 2 Review of gene mutation sites

Ref.	cDNA	Gene	Exon	CM	Clinical symptoms
Yoshida et al[5], 2017	-	FGB	-	Ala68Thr	Superior sagittal sinus thrombosis, pulmonary embolism, DVT
Qiao et al[16], 2020	c.92G>A	FGA	-	p.Gly31Glu	No symptoms so far
Kotlín et al[22], 2012	-	FGA	-	Gly13Glu and Ser314Cys	Easy bruising, excessive bleeding during pregnancy and delivery, menorrhagia
Kotlín et al[22], 2022	-	FGA	-	Gly13Glu	Epistaxis, bleeding from gums, prolonged bleeding after venipuncture
Luo et al[23], 2016	c.104G>A	FGA	2	Arg16His	Mostly asymptomatic, sometimes severe bleeding and postpartum DIC
Cai et al[24], 2018	c.103C>A	FGA	2	Arg38Thr	No symptoms so far
Shlebak et al[25], 2017	c.221G> T	FGB	2	p.Arg74Leu	Venous and arterial thrombosis
Casini et al[26], 2017	c.284 G>C	FGB	2	p.Cys95Ser	One miscarriage followed by metrorrhagia lasting nearly 2 mo
Undas et al[27], 2009	c.1052A>T	FGG	8	Asn325Ile	DVT after appendectomy
Luo et al[28], 2020	c.1178T>C	FGG	9	p.IIe367Thr	Menorrhagia
Yan et al[29], 2016	g.5877G>A	FGG	8	Arg275His	No symptoms so far
Imafuku et al[30], 2002	γ chain from Arg 275 to Cys (gR275C)	FGG	8	γ R275C	No symptoms so far

CM: Causative mutations; cDNA: Complementary DNA; FGA: Fibrinogen alpha chain; FGB: Fibrinogen beta chain; FGG: Fibrinogen gamma chain; DIC: Disseminated intravascular coagulation; DVT: Deep venous thrombosis.