Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy

2021 ◽  
pp. 1-6
Author(s):  
K. Oatmen ◽  
S. Camelo-Piragua ◽  
N. Zaghloul
Keyword(s):  
Muscle Biopsy ◽  
Progressive Disease ◽  
Novel Mutation ◽  
Case Reports ◽  
Muscle Disorders ◽  
Dysmorphic Features ◽  
Heterozygous Variant ◽  
Myosin Heavy Chain Genes ◽  
Term Baby ◽  
Unusual Phenotype

INTRODUCTION: Hereditary myosin myopathies are muscle disorders caused by mutations in myosin heavy chain genes. The MYH2 gene encodes the fast 2A skeletal muscle isoform, and mutations manifest as joint contractures, muscle weakness, and external ophthalmoplegia. Muscle biopsy shows decreased type 2A fibers, and vacuoles are sometimes present in adults with progressive disease. PRESENTATION OF CASE: This case describes a full term baby boy with hypotonia, dysmorphic features, dysphagia, and aspiration. Whole genome sequencing detected a novel heterozygous variant in the MYH2 gene. Muscle biopsy showed decreased type 2A fibers and vacuoles in myofibers. DISCUSSION: Hypotonia and dysphagia are common in infants with a MYH2 myopathy. However, dysmorphic features and vacuoles on biopsy have not previous been described in infants with MYH2 myopathies. CONCLUSION: This case reports an unusual phenotype of a rare neonatal-onset congenital myopathy associated with a novel heterozygous variant in MYH2.

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

scholarly journals A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

Reumatismo ◽  
2019 ◽  
Vol 71 (2) ◽  
pp. 85-87
Author(s):  
S. Farjadian ◽  
F. Bonatti ◽  
A. Soriano ◽  
M. Reina ◽  
A. Adorni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mutational Analysis ◽  
Novel Mutation ◽  
Present Report ◽  
Case Reports ◽  
Mefv Gene ◽  
Recurrent Fever ◽  
Iranian Patient ◽  
Mediterranean Fever ◽  
Exon 10

Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ethnic groups including the Iranians. We report a 12-year-old boy from Iran, with a clinical history of recurrent fever. Based on the suggestive clinical data, mutational analysis revealed the presence of the novel c.1945C>T heterozygous variant in exon 10, which leads to a leucine to phenylalanine change at position 649 of the protein. The mutation was inherited from the mother. This novel mutation lies in exon 10 of the MEFV gene, which encodes for a domain called B30.2-SPRY, located in the C-terminal region of the pyrin protein and contains the most frequent mutations associated with FMF. The present report expands the spectrum of MEFV gene mutations associated with FMF. The uniqueness of this study, compared with other published case reports, consists in the new mutation found in the MEFV gene. In fact, new mutations in this gene are of high interest, in order to better understand the role of this gene in autoinflammation.

scholarly journals Systematic review of pineal cysts surgery in pediatric patients

2020 ◽  
Vol 36 (12) ◽  
pp. 2927-2938
Author(s):  
Joham Choque-Velasquez ◽  
Roberto Colasanti ◽  
Szymon Baluszek ◽  
Julio Resendiz-Nieves ◽  
Sajjad Muhammad ◽  
...  
Keyword(s):  
Systematic Review ◽  
Progressive Disease ◽  
Pediatric Patients ◽  
Individual Patient Data ◽  
Comprehensive Evaluation ◽  
Case Reports ◽  
Case Series ◽  
Complete Surgical Resection ◽  
Observational Series ◽  
Last Stage

Abstract Introduction We present a consecutive case series and a systematic review of surgically treated pediatric PCs. We hypothesized that the symptomatic PC is a progressive disease with hydrocephalus at its last stage. We also propose that PC microsurgery is associated with better postoperative outcomes compared to other treatments. Methods The systematic review was conducted in PubMed and Scopus. No clinical study on pediatric PC patients was available. We performed a comprehensive evaluation of the available individual patient data of 43 (22 case reports and 21 observational series) articles. Results The review included 109 patients (72% females). Ten-year-old or younger patients harbored smaller PC sizes compared to older patients (p < 0.01). The pediatric PCs operated on appeared to represent a progressive disease, which started with unspecific symptoms with a mean cyst diameter of 14.5 mm, and progressed to visual impairment with a mean cyst diameter of 17.8 mm, and hydrocephalus with a mean cyst diameter of 23.5 mm in the final stages of disease (p < 0.001). Additionally, 96% of patients saw an improvement in their symptoms or became asymptomatic after surgery. PC microsurgery linked with superior gross total resection compared to endoscopic and stereotactic procedures (p < 0.001). Conclusions Surgically treated pediatric PCs appear to behave as a progressive disease, which starts with cyst diameters of approximately 15 mm and develops with acute or progressive hydrocephalus at the final stage. PC microneurosurgery appears to be associated with a more complete surgical resection compared to other procedures.

scholarly journals myoMIR and gene expression in myofibrillar myopathy

2021 ◽  
Author(s):  
Matheus Moreira Perez ◽  
David Feder, Beatriz da Costa Aguiar Alves ◽  
Fernando Luiz Affonso Fonseca ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Gene Expression ◽  
Mrna Expression ◽  
Muscle Biopsy ◽  
Diagnostic Value ◽  
Included Study ◽  
Control Group ◽  
Protective Function ◽  
Muscle Disorders ◽  
Skeletal Tissue ◽  
Student’S T

Background: Myofibrillar myopathies (MFM) represent a heterogeneous group of muscle disorders caused by mutations in different genes. It has been identified a group of microRNAs present in muscles named myoMIR. Objective: Evaluate the diagnostic value of these myoMIRs and mRNA expression in skeletal tissue from muscle biopsy of patients with MFM. Design and Setting: Muscle biopsies from 16 MFM patients with mutations in Desmin (DES), Myotilin (MYOT), ZASP, or Filamin C (FLNC) genes, and 18 donors (patients with minimal non- specific changes in muscle biopsy) were included. Study were conducted at FMABC. Methods: mRNA and myoMIR expression from both groups were assessed. The target myoMIRs were MIR1, MIR133a, MIR133b, MIR206, MIR208a, MIR208b, MIR486, and MIR499. Anova and Student’s t-test were performed. Results: Six patients presented mutations in DES, five in ZASP, three in FLNC, and two in MYOT. MIR133b (p=0.05), MIR499 (p=0.027), and mRNA expression was up-regulated in patients with MFM. MIR208a (p=0.042) was higher in the control group. We found an association between MIR133a and the presence of mutations in all genes studied (p=0.006). A relation between MIR486 and mutations in ZASP and DES (p=0.035) was also noted. Conclusions: • MIR208a seems to have a protective function in the muscle fiber; • Heterogeneity could be related to the concentration of gene expression in each patient; • Expression of myoMIRs influences several aspects in the muscle function through genes modulation which are important to myogenesis control;

scholarly journals Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Xiaojian Mao ◽  
Sichi Liu ◽  
Yunting Lin ◽  
Zhen Chen ◽  
Yongxian Shao ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Novel Mutation ◽  
Case Reports ◽  
Chinese Children ◽  
Deciduous Teeth ◽  
Missense Mutations ◽  
The Novel ◽  
Genetic Characteristics ◽  
Chinese Families ◽  
Alp Activity

Abstract Objective Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific Alkaline Phosphatase (TNSALP). It is subdivided into six forms depending on the age of onset: perinatal lethal, prenatal benign, infantile, childhood, adult, and odonto HPP. Among these, infantile HPP is characterized by early onset and high frequency of lethal outcome. Few studies have reported the phenotype and genetic characteristics of HPP in Chinese children. Case presentation Three forms of HPP were identified in four unrelated patients from four different Chinese families, including one lethal infantile (patient 1), two childhood (patient 2 and 3) and one odonto HPP (patient 4). Six variants in the ALPL gene were identified, including five missense mutations and one frameshift mutation. Of which, none were reported previously in the Chinese population, and two were novel (c.359G > C: p.G120A and c.1017dupG: p.H340AfsX3). Patient 1 carrying a novel homozygous (c.359G > C) mutation showed respiratory distress and pneumonia at first day of his life. He presented nearly negligible level of serum ALP activity, overall skeletal hypominaralization and died at 3 months old. Patient 2, 3 and 4 were compound heterozygotes with decreased serum ALP activity. Patient 2 and 3 presented premature loss of deciduous teeth, muscle weakness and bone pain, whereas patient 4 had early loss of deciduous teeth only. All four pedigrees exhibited autosomal recessive pattern of inheritance. Conclusions In this study, six mutations in the ALPL gene were found in four Chinese HPP patients, two of which were novel: c.359G > C in exon 5 and c.1017dupG in exon 10. Our results strongly indicated that the novel mutation c.359G > C might be disease-causing and associated with severe infantile form of HPP.

scholarly journals A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Zahra Alsahlawi ◽  
Mohamed Jailani ◽  
Husain Alaradi ◽  
Abdulaziz AlAbbad
Keyword(s):  
Intellectual Disability ◽  
Novel Mutation ◽  
Skin Infections ◽  
Loss Of Function ◽  
Genetic Condition ◽  
Dysmorphic Features ◽  
Night Terrors ◽  
Behavioral Abnormalities ◽  
New Findings ◽  
Bulbous Nasal Tip

DeSanto-Shinawi syndrome is a rare genetic condition caused by loss-of-function mutation in WAC. It is characterized by dysmorphic features, intellectual disability, and behavioral abnormalities. In this case report, we describe the clinical features and genotype of a patient with a novel mutation 1346C > A in WAC. This patient’s dysmorphic features include a prominent forehead, bulbous nasal tip, macroglossia, deep-set eyes, and malar hypoplasia. This patient also showed signs of intellectual disability and behavioral abnormalities such as night terrors. These findings are consistent with those described in earlier reports. Here, we report new findings of epilepsy and recurrent skin infections which had not been reported in prior studies.

scholarly journals Two different presentations of de novo variants of CSNK2B: two case reports

2022 ◽  
Vol 16 (1) ◽  
Author(s):  
Matheus V. M. B Wilke ◽  
Bibiana M. Oliveira ◽  
Alessandra Pereira ◽  
Maria Juliana R. Doriqui ◽  
Fernando Kok ◽  
...  
Keyword(s):  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Case Reports ◽  
Neurologic Disorder ◽  
Left Hand ◽  
Dysmorphic Features ◽  
Chief Complaints ◽  
Severe Hypotonia ◽  
De Novo Variant ◽  
Caucasian Female

Abstract Background Poirier–Bienvenu neurodevelopmental syndrome is a neurologic disorder caused by mutations in the CSNK2B gene. It is mostly characterized by early-onset seizures, hypotonia, and mild dysmorphic features. Craniodigital syndrome is a recently described disorder also related to CSNK2B, with a single report in the literature. Objective To report two unrelated cases of children harboring CSNK2B variants (NM_001320.6) who presented with distinct diseases. Case report Case 1 is a 7-month-old, Caucasian, female patient with chief complaints of severe hypotonia and drug-refractory myoclonic epilepsy, with a likely pathogenic de novo variant c.494A>G (p.His165Arg). Case 2 is a 5-year-old male, Latino patient with craniodigital intellectual disability syndrome subjacent to a de novo, likely pathogenic variant c.94G>T (p.Asp32Tyr). His dysmorphic features included facial dysmorphisms, supernumerary nipples, and left-hand postaxial polydactyly. Conclusion This report suggest that the CSNK2B gene may be involved in the physiopathology of neurodevelopmental disorders and variable dysmorphic features.

Wiskott–Aldrich syndrome: Two case reports with a novel mutation

2017 ◽  
Vol 34 (5) ◽  
pp. 286-291 ◽  
Author(s):  
Karaman Kamuran ◽  
Mecnun Çetin ◽  
Hadi Geylan ◽  
Serap Karaman ◽  
Nihat Demir ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Case Reports ◽  
Wiskott Aldrich Syndrome
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