Identification of a novel mutation in congenital afibrinogenemia in Iranian patients

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Somayeh Takrim Nojehdeh ◽  
Marzieh Mojbafan ◽  
Mahboobeh Masoodifard ◽  
Masoume Amini ◽  
Sirous Zeinali
Keyword(s):  
Novel Mutation ◽  
Congenital Afibrinogenemia ◽  
Iranian Patients

Severe Spontaneous Intracranial Bleeding in 11 Months Old Boy with Congenital Afibrinogenemia with Novel Mutation - Deletion aα 6477A in Fibrinogen Gene

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 5070-5070
Author(s):  
Ondrej Zapletal ◽  
Jan Blatny ◽  
Roman Kotlin ◽  
Jan E Dyr
Keyword(s):  
Replacement Therapy ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Conflicts Of Interest ◽  
Novel Mutation ◽  
Intracranial Bleeding ◽  
Severe Bleeding ◽  
Fibrinogen Concentrate ◽  
Spontaneous Bleeding ◽  
Congenital Afibrinogenemia

Abstract Congenital afibrinogenemia is very rare inherited bleeding disorder, caused by absence of fibrinogen in plasma. Serious spontaneous bleeding including intracranial haemorrhage may occur at any age. We present a case report of a boy with afibrinogenemia caused by novel mutation – homozygous deletion Aα 6477A. Diagnosis was set after bleeding post cleft lip and palate plastic surgery. Spontaneous intracranial haematoma in occipital region occurred when the boy was 11 month old. Replacement therapy with plasma derived fibrinogen concentrate successfully covered neurosurgical evacuation of hematoma. The patient was then commenced on regular prophylaxis with fibrinogen concentrate two times a week. No further bleeding episodes occurred until present time. Spontaneous intracranial bleeding in patients with inherited bleeding disorders is often life threatening. Immediate replacement therapy is crucial, together with diagnostics and surgery, when necessary. Prophylactic substitution therapy after a severe bleeding episode is recommended. Disclosures No relevant conflicts of interest to declare.

scholarly journals Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism

2020 ◽  
Vol 23 (12) ◽  
pp. 842-847
Author(s):  
Goli Kazemi ◽  
Fatemeh Peymani ◽  
Marzieh Mohseni ◽  
Farzane Zare Ashrafi ◽  
Sanaz Arzhangi ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Neurodevelopmental Disorders ◽  
Novel Mutation ◽  
Facial Dysmorphism ◽  
Loss Of Function ◽  
Disease Mechanism ◽  
Acceptor Splice Site ◽  
Whole Exome ◽  
Genetic Landscape ◽  
Iranian Patients

Background: Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. Methods: Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature. Results: Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.C925T, p.R309X) variant and a previously known homozygous acceptor splice-site (c.1669-1_1671del) variant in LARP7 gene, indicating the diagnosis of Alazami syndrome. Conclusion: These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in LARP7 and provide further evidence that loss of function of LARP7 is the disease mechanism.

scholarly journals Allgrove Syndrome in Iranian Patients and Report on a Novel Mutation in AAAS Gene

2018 ◽  
Vol 28 (1) ◽  
Author(s):  
Mahin Hashemipour ◽  
Mehdi Khorrami ◽  
Manijeh Mahdavi ◽  
Maryam Hosseindokht Khujin ◽  
Majid Kheirollahi
Keyword(s):  
Novel Mutation ◽  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Iranian Patients

scholarly journals Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia

2016 ◽  
Vol 42 (04) ◽  
pp. 455-458 ◽  
Author(s):  
Zuzana Snahnicanova ◽  
Dusan Loderer ◽  
Juraj Sokol ◽  
Jan Stasko ◽  
Zora Lasabova ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Congenital Afibrinogenemia

Congenital mirror movements in a family with a novel mutation in the DCC gene

2011 ◽  
Vol 42 (S 01) ◽  
Author(s):  
GC Korenke ◽  
M Wagner ◽  
A Maak ◽  
G Rosenberger ◽  
K Kutsche
Keyword(s):  
Novel Mutation ◽  
Mirror Movements ◽  
Dcc Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

Characterization of the Original Christmas Disease Mutation (Cysteine 206 → Serine): From Clinical Recognition to Molecular Pathogenesis

1992 ◽  
Vol 67 (01) ◽  
pp. 063-065 ◽  
Author(s):  
Sherryl A M Taylor ◽  
Jacalyn Duffin ◽  
Cherie Cameron ◽  
Jerome Teitel ◽  
Bernadette Garvey ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Novel Mutation ◽  
Factor Ix ◽  
Causative Mutation ◽  
Coding Region ◽  
Body Of Knowledge ◽  
Polymerase Chain ◽  
Splice Junctions

SummaryChristmas disease was first reported as a distinct clinical entity in two manuscripts published in 1952 (1, 2). The eponym associated with this disorder, is the surname of the first patient examined in detail and reported by Biggs and colleagues in a paper describing the clinical and laboratory features of seven affected individuals (3). This patient has severe factor IX coagulant deficiency (less than 0.01 units/ml) and no detectable circulating factor IX antigen (less than 0.01 units/ml). Coding sequence and splice junctions of the factor IX gene from this patient have been amplified in vitro through the polymerase chain reaction (PCR). One nucleotide substitution was identified at nucleotide 30,070 where a guanine was replaced by a cytosine. This mutation alters the amino acid encoded at position 206 in the factor IX protein from cysteine to serine. The non conservative nature of this substitution, the absence of this change in more than 200 previously sequenced factor IX genes and the fact that the remainder of the coding region of this gene was normal, all provide strong circumstantial evidence in favour of this change being the causative mutation in this patient. The molecular characterization of this novel mutation in the index case of Christmas disease, contributes to the rapidly expanding body of knowledge pertaining to Christmas disease pathogenesis.

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