scholarly journals Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

2014 ◽  
Vol 2014 ◽  
pp. 1-6
Author(s):  
Gulden Diniz ◽  
Hulya Tosun Yildirim ◽  
Sarenur Gokben ◽  
Gul Serdaroglu ◽  
Filiz Hazan ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Autosomal Recessive ◽  
Dna Analysis ◽  
Dystrophin Gene ◽  
Homozygous Deletion ◽  
High Serum ◽  
Molecular Test ◽  
Primary Alpha ◽  
Heterozygous Carriers ◽  
Very High

Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very high serum creatinine phosphokinase level, which was determined incidentally, and a negative molecular test for the dystrophin gene. Muscle biopsy showed dystrophic features. Immunohistochemistry showed that there was diminished expression of alpha- and gamma-sarcoglycans. DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the alpha-sarcoglycan gene. His parents were consanguineous heterozygous carriers of the same deletion. We believe this is the first confirmed case of primary alpha-sarcoglycanopathy with a novel deletion in Turkey. In addition, this study demonstrated that both muscle biopsy and DNA analysis remain important methods for the differential diagnosis of muscular dystrophies because dystrophinopathies and sarcoglycanopathies are so similar.

scholarly journals Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene

2015 ◽  
Vol 18 (2) ◽  
pp. 71-76 ◽  
Author(s):  
G Diniz ◽  
H Tekgul ◽  
F Hazan ◽  
K Yararbas ◽  
A Tukun
Keyword(s):  
Dna Analysis ◽  
Molecular Genetic ◽  
Dystrophin Gene ◽  
Homozygous Deletion ◽  
Large Deletion ◽  
Clinical Findings ◽  
High Serum ◽  
Muscle Enzyme ◽  
Enzyme Elevation ◽  
Additional Support

Abstract Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in the SCGB gene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.

Focal Segmental Glomerulosclerosis Associated with Mitochondrial Cytopathy: Report of Two Cases with Special Emphasis on Podocytes

2005 ◽  
Vol 8 (6) ◽  
pp. 710-717 ◽  
Author(s):  
Şafak Güçer ◽  
Beril Talim ◽  
Esin Aşan ◽  
Petek Korkusuz ◽  
Seza Özen ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Muscle Biopsy ◽  
Dna Analysis ◽  
Cell Damage ◽  
Serum Lactate ◽  
High Serum ◽  
Glomerular Epithelial Cell ◽  
Mitochondrial Cytopathy ◽  
Segmental Glomerulosclerosis ◽  
Renal Complication

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.

scholarly journals Rigid spine syndrome: case report

1998 ◽  
Vol 56 (4) ◽  
pp. 812-818 ◽  
Author(s):  
VIVIANE H. FLUMIGNAN ZÉTOLA ◽  
ROSANA HERMÍNIA SCOLA ◽  
SALMO RASKIN ◽  
DANIEL MONTE SERRAT PREVENDELLO ◽  
YLMAR CORREA NETO ◽  
...  
Keyword(s):  
Plasma Membrane ◽  
Case Report ◽  
Muscle Biopsy ◽  
Dna Analysis ◽  
Dystrophin Gene ◽  
Muscle Enzymes ◽  
Lower Member ◽  
Rigid Spine Syndrome

We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Atsushi Kondo ◽  
China Nagano ◽  
Shinya Ishiko ◽  
Takashi Omori ◽  
Yuya Aoto ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Carrier Frequency ◽  
Japanese Population ◽  
Autosomal Recessive ◽  
Disease Prevalence ◽  
Gitelman Syndrome ◽  
Variant Allele ◽  
Variant Allele Frequency ◽  
Genome Databases ◽  
Heterozygous Carriers

AbstractGitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact prevalence is unknown. We estimated the predicted prevalence of Gitelman syndrome based on multiple genome databases, HGVD and jMorp for the Japanese population and gnomAD for other ethnicities, and included all 274 pathogenic missense or nonsense variants registered in HGMD Professional. The frequencies of all these alleles were summed to calculate the total variant allele frequency in SLC12A3. The carrier frequency and the disease prevalence were assumed to be twice and the square of the total allele frequency, respectively, according to the Hardy–Weinberg principle. In the Japanese population, the total carrier frequencies were 0.0948 (9.5%) and 0.0868 (8.7%) and the calculated prevalence was 0.00225 (2.3 in 1000 people) and 0.00188 (1.9 in 1000 people) in HGVD and jMorp, respectively. Other ethnicities showed a prevalence varying from 0.000012 to 0.00083. These findings indicate that the prevalence of Gitelman syndrome in the Japanese population is higher than expected and that some other ethnicities also have a higher prevalence than has previously been considered.

scholarly journals Splenic Angiosarcoma Presenting With Jaundice, Ascites and Bone Marrow Fibrosis

Sarcoma ◽  
2003 ◽  
Vol 7 (3-4) ◽  
pp. 183-184 ◽  
Author(s):  
Kim Vaiphei ◽  
Virinder Singh ◽  
Subhash Varma
Keyword(s):  
Bone Marrow ◽  
Portal Tract ◽  
High Serum ◽  
Chronic Alcoholic ◽  
Contrast Enhanced Ct ◽  
Contrast Enhanced ◽  
Enhanced Ct ◽  
Splenic Angiosarcoma ◽  
Very High ◽  
High Serum Bilirubin

A middle aged chronic alcoholic presented with deep jaundice, markedly enlarged and tender spleen with leukoerythroblastic blood picture and bone marrow biopsy showing mild fibrosis. He was tested negative for HIV, hepatitis B and C viruses. Besides very high serum bilirubin, alkaline phosphatase was raised four times the normal value. Contrast enhanced CT showed enlarged spleen and liver with multiple heterogenous lesions in spleen and tiny hypo-dense lesions in liver. In hospital, he developed haemolytic uraemic syndrome and succumed to his illness. At autopsy spleen weighed 5200 gms and variegated in appearance due to large areas of necrosis and whitish tumour nodules. Histology revealed morphology of an angiosarcoma. Liver was also infiltrated by the tumour mainly in and around portal tract areas.

scholarly journals Hashimoto’s Encephalopathy Presenting with Unusual Behavioural Disturbances in an Adolescent Girl

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Murugan Selvaraj Karthik ◽  
Kulothungan Nandhini ◽  
Viswanath Subashini ◽  
Ramasamy Balakrishnan
Keyword(s):  
Clinical Presentation ◽  
Autoimmune Disorder ◽  
High Serum ◽  
Thyroid Antibodies ◽  
Antipsychotic Medications ◽  
Hashimoto’S Encephalopathy ◽  
Neuropsychiatric Manifestations ◽  
Euthyroid Status ◽  
Very High

Hashimoto’s encephalopathy (HE) is a rare autoimmune disorder with neurological and neuropsychiatric manifestations and elevated titres of anti-thyroid antibodies. Here we are reporting a case of HE in a 19-year-old girl who presented with seizure-like episodes, confusion, and behavioural disturbances with catatonic symptoms such as posturing, echopraxia, echolalia, and ambivalence. Patient did not respond to antipsychotics and anticonvulsants. On further investigation, patient was found to have high serum anti-TPO antibodies of about 1261 U/mL with euthyroid status, which supported a suspicion of HE. Our consultant neurologist confirmed the diagnosis and she was started on injection of methylprednisolone 750 mg OD. Since patient started showing clinical improvement, her antipsychotic medications were tapered off. On follow-up, patient has recovered and is functioning well. Since HE is a diagnosis of exclusion, very high anti-TPO antibodies and good response to steroids supported the diagnosis of HE in this patient after excluding other etiological possibilities. This case has been reported because the clinical presentation was predominantly neurobehavioural manifestations which is uncommon with HE.

scholarly journals Warmblood fragile foal syndrome causative single nucleotide polymorphism frequency in horses in Ireland

2021 ◽  
Vol 74 (1) ◽  
Author(s):  
Áine Rowe ◽  
Sharon Flanagan ◽  
Gerald Barry ◽  
Lisa M. Katz ◽  
Elizabeth A. Lane ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Scientific Literature ◽  
Genetic Test ◽  
Low Frequency ◽  
Autosomal Recessive Disorder ◽  
Causative Mutation ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Hair Samples ◽  
Heterozygous Carriers

Abstract Background Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene. Homozygosity for the mutation results in defective collagen synthesis which clinically manifests as the birth of non viable or still born foals with abnormally fragile skin. While the mutation has been identified in non Warmblood breeds including the Thoroughbred, to date all homozygous clinically affected cases reported in the scientific literature are Warmblood foals. The objective of this study was to investigate the carrier frequency of the mutation in the Thoroughbred and sport horse populations in Ireland. Methods A test was developed at the UCD School of Veterinary Medicine using real-time PCR to amplify the PLOD1 gene c.2032G > A variant. A subset of the samples was also submitted to an external laboratory with a licensed commercial WFFS genetic test. Results Warmblood Fragile Foal Syndrome genotyping was performed on hair samples from 469 horses representing 6 different breeds. Six of 303 (1.98%) sport horses tested and three of 109 (2.75%) Thoroughbreds tested were heterozygous for the WFFS polymorphism (N/WFFS). The WFFS polymorphism was not identified in the Standardbred, Cob, Connemara, or other pony breeds. Conclusions The study identified a low frequency of the WFFS causative mutation in sport horses and Thoroughbreds in Ireland, highlighting the importance of WFFS genetic testing in order to identify phenotypically normal heterozygous carriers and to prevent the birth of nonviable foals.

CT and MRI of the Brain in Inherited Neurometabolic Disorders

1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S112-S131 ◽  
Author(s):  
Jan Brismar
Keyword(s):  
World Literature ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Neurometabolic Disorder ◽  
Neurometabolic Disorders ◽  
Number Of Patients ◽  
Pediatric Neurologist ◽  
The Brain ◽  
Very High ◽  
Ct And Mri

The incidence of many autosomal recessive neurometabolic disorders is very high in Saudi Arabia, probably as a result of the frequency of consanguineous marriages. Because our hospital is the main referral center for the entire Kingdom, we examine a large number of patients who have a wide spectrum of neurometabolic disorders. We add our experience and review the world literature. Though a specific diagnosis is radiologically possible in a few disorders, the diagnosis must always be verified biochemically. When the patient is referred from a pediatric neurologist with the diagnosis of neurometabolic disorder, the aim of the neuroradiologist is to determine the amount of brain damage present and to follow the response to given therapy. When the patient is referred with a nonspecific diagnosis, such as delayed development, the aim is to suggest the possibility of a neurometabolic disorder and to initiate further evaluation including possible therapy and genetic counseling. (J Child Neurol 1992;7(Suppl):S112-S131.)

scholarly journals Acute Onset Polymyositis after Prolactinoma Extirpation

2014 ◽  
Vol 2014 ◽  
pp. 1-2
Author(s):  
Juan Jakez-Ocampo ◽  
Yemil Atisha-Fregoso ◽  
Luis Llorente
Keyword(s):  
Autoimmune Diseases ◽  
Muscle Biopsy ◽  
Steroid Therapy ◽  
Acute Onset ◽  
Pituitary Macroadenoma ◽  
Inflammatory Infiltration ◽  
Total Recovery ◽  
First Case ◽  
Very High

Hyperprolactinemia has been related to autoimmune diseases. Herein, we describe a case of a female with a prolactin producer pituitary macroadenoma who developed severe polymyositis one month after its removal. The patient had very high levels of CPK and muscle biopsy showed remarkable inflammatory infiltration. Steroid therapy was followed with total recovery. To the best of our knowledge, this is the first case reported of acute polymyositis after pituitary macroadenoma exeresis.

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