ARG-301 / arGentis - LARVOL DELTA

[VIRTUAL] Clinical and Molecular Characterization of Iranian Patients with Congenital Qualitative Fibrinogen Disorders (ISTH 2021) - "In patients with dysfibrinogenemia, two hotspot mutations (Arg35 and Arg301) were identified in 60%: p.Arg35His (20%), p.Arg35cys (10%), and p.Arg301Cys (30%), and the remaining patients (40%) had p.Arg38Thr mutation...Cutaneous bleeding (64%) and menorrhagia (43%) were the common bleeding manifestations. Conclusions : We found several mutations with variable BS indicating that there was a weak genotype-phenotype correlation in CFDs."

Clinical • Cardiovascular • Gynecology • Hematological Disorders • Thrombosis • Venous Thromboembolism • PCR

Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders. (PubMed, Transfus Apher Sci) - "There was a weak genotype-phenotype correlation in CFDs and patients with dysfibrinogenemia were more symptomatic than in previous studies. Despite ethnic's differences, the prevalence of hotspot mutations in dysfibrinogenemia was similar to the other studies."

Clinical • Journal • Gynecology • PCR

Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population. (PubMed, J Thromb Thrombolysis) - "Arg35 in FGA and Arg301 in FGG were responsible for IFD in more than half of patients in the Chinese population. It is possible to distinguish four types of IFD by using a global coagulation screening assay. Mutations in FGA, FGB and FGG occur in different functional regions, and Arg changes account for more than 70% of patients with IFD in the Chinese population, especially Arg-Cys, which may be associated with severe clinical symptoms."

Clinical • Journal

Primary coenzyme Q10 deficiency due to COQ8A gene mutations. (PubMed, Mol Genet Genomic Med) - "We identified a patient with COQ10D4 caused by novel COQ8A mutations. Our findings widen the spectrum of COQ8A gene mutations and clinical manifestations."

Journal • Ataxia • Friedreich ataxia • Movement Disorders • MRI

[VIRTUAL] Fibrin Clot Properties in Patients with Qualitative Fibrinogen Disorders: Data from the PRO-RBDD Cohort (ISTH 2020) - "Close to half of patients were carriers of a hotspot mutation (FGA Arg35Cys/His or FGG Arg301Cys/His, 48.9%)... Patients with a bleeding tendency have an increased permeability. Follow-up studies will help to determine if this parameter is able to predict a bleeding phenotype and thus guide patient management"

Clinical • Cardiovascular • Hematological Disorders • Thrombosis

A variant of human growth differentiation factor-9 that improves oocyte developmental competence. (PubMed, J Biol Chem) - "We demonstrate that unique BMP15 finger residues at this site (Arg-301, Gly-304, His-307, and Met-369) enable potent activation of the SMAD2/3 pathway...Super-GDF9 was >1000-fold more potent than wildtype human GDF9 and 4-fold more potent than cumulin in SMAD2/3-responsive transcriptional assays in granulosa cells. Our demonstration that Super-GDF9 can effectively promote mouse cumulus cell expansion and improve oocyte quality in vitro represents a potential solution to the current challenges of producing and purifying intact cumulin."

Journal • Gynecology • Sexual Disorders • Women's Health

The Prevalence of Fabry Disease Among Turkish Patients with Non-obstructive Hypertrophic Cardiomyopathy: Insights from a Screening Study (PubMed, Balkan Med J) - "Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln). FD should be included in the differential diagnosis of idiopathic LVH without LVOT obstruction. The cardiologist may have an essential role in the screening and diagnosis of Fabry disease because of the high frequency of cardiac involvement and LVH."

Clinical • Journal

Loss-of-function mutations in the ALPL gene presenting with adult onset osteoporosis and low serum concentrations of total alkaline phosphatase. (PubMed, J Bone Miner Res) - "Ten of these individuals were heterozygous for mutations previously described in HPP and two were heterozygous for novel mutations (p.Arg301Trp and p.Tyr101X)...We conclude that heterozygous loss-of-function mutations in ALPL are common in osteoporosis patients with low ALP. Further studies are required to determine how best these individuals should be treated."

Clinical • Journal

Genetic Characterization of Congenital Fibrinogen Disorders in Polish Patients - Clinical Phenotype and Follow-up (ISTH 2019) - "...Seven dysfibrinogenemic patients (22%) were carriers of hot-spot mutations: FGG Arg301Cys (n=2), FGG Arg301His (n=3) and FGA Arg35His (n=2)... To our knowledge, this is the largest cohort of Polish patients with fibrinogen disorders and evaluated for the causal genetic background."

Clinical

Clinical and Molecular Characterization by NGS of Spanish Patients affected by Congenital Deficiency of Fibrinogen (ISTH 2019) - "... In our study, the most frequent condition has been missense variants in exon 8 of FGG gene, three of them resulted in a dysfibrinogenemia (p.Arg301His; p.Arg301Cys; p.Met336Thr) and three associated to hypofibrinogenemia(p.Tyr374Cys; p.Arg401Trp; p.Ala108Gly)... We have described five novel missense variants in FGA gene (p.Arg114Lys; p.Lys71Thr; p.Trp334Cys; p.Asn335Tyr) and in FGG gene (p.Tyr374Cys). FGA p.Lys71Thr and FGG p.Asn335Tyr resulted in hypofibrinogemia and the rest led to dysfibrinogenemia . A novel small deletion in FGA gene (c.1441delG in FGA gene) has been detected in a heterozygous compound status in a proband."

Clinical • Next-Generation Sequencing

Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis. (PubMed, Blood Cells Mol Dis) - No abstract available.

Biomarker • Journal • Next-Generation Sequencing

Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy. (PubMed, J Korean Med Sci) - "...Three had previously identified mutations; Gly328Arg, Arg301Gln, and His46Arg...Although the prevalence of Fabry disease was low in our study, early treatment of Fabry disease can result in a good prognosis. Therefore, in men with unexplained LVH, differential diagnosis of Fabry disease should be considered."

Journal