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.

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.

Abnormal Processing of the Glycoprotein IIb Transcript due to a Nonsense Mutation in Exon 17 Associated with Glanzmann’s Thrombasthenia

1995 ◽  
Vol 73 (05) ◽  
pp. 756-762 ◽  
Author(s):  
Yoshiaki Tomiyama ◽  
Hirokazu Kashiwagi ◽  
Satoru Kosugi ◽  
Masamichi Shiraga ◽  
Yoshio Kanayama ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Molecular Genetic ◽  
Genetic Defect ◽  
Nucleotide Sequence Analysis ◽  
Type I ◽  
Normal Amount ◽  
Immunoblot Assay ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Pcr Products

SummaryWe analyzed the molecular genetic defect responsible for type I Glanzmann’s thrombasthenia in a Japanese patient. In an immunoblot assay using polyclonal anti-GPIIb-IIIa antibodies, some GPIIIa (15% of normal amount) could be detected in the patient’s platelets, whereas GPIIb could not (<2% of normal amount). Nucleotide sequence analysis of platelet GPIIb mRNA-derived polymerase chain reaction (PCR) products revealed that patient’s GPIIb cDNA had a 75-bp deletion in the 3’ boundary of exon 17 resulting in an in-frame deletion of 25 amino acids. DNA analysis and family study revealed that the patient was a compound heterozygote of two GPIIb gene defects. One allele derived from her father was not expressed in platelets, and the other allele derived from her mother had a 9644C → T mutation which was located at the position -3 of the splice donor junction of exon 17 and resulted in a termination codon (TGA). Moreover, quantitative analysis demonstrated that the amount of the abnormal GPIIb transcript in the patient’s platelets was markedly reduced. Thus, the C → T mutation resulting in the abnormal splicing of GPIIb transcript and the reduction in its amount is responsible for Glanzmann’s thrombasthenia.

GENETIC CERTIFICATION OF FODDER CROPS BREEDING ACHIEVEMENTS

1970 ◽  
pp. 40-46
Author(s):  
V. M. Kosolapov ◽  
N. N. Kozlov ◽  
I. А. Klimenko ◽  
V. N. Zolotarev
Keyword(s):  
Dna Analysis ◽  
Molecular Genetic ◽  
Practical Importance ◽  
Genetic Identification ◽  
Necessary Condition ◽  
Forage Crops ◽  
Fodder Crops ◽  
Long Time ◽  
Analytical Review ◽  
Prospects Of Application

The methods of genetic identification of forage crops varieties and forms have significant scientific and practical importance in breeding and seed multiplication, in protection of author’s rights. At the current moment molecular markers on the base of DNA-polymorphism have been applied widely for these aims. This analytical review examines the possibilities and the prospects of application the different DNA-analysis methods for assessment of forage crops genetic diversity and for development the molecular-genetic passports of breeding achievements. The objective estimation of varieties structure and presence impurities is a necessary condition for improving the methodical approaches in approbation of crops and for decision the problems of timely variety-seed renovation and its systematic replacement. The system of DNA markers that registered in genetic passport will enable to keep the initial genetic structure of variety and to maintain it in production process during long time without fluctuations of agronomic important characteristics and properties. This factor is especially valuable for development the primary seed multiplication.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene

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 Molecular Genetics and Fetal Brain

2008 ◽  
Vol 2 (3) ◽  
pp. 87-99
Author(s):  
Ana Stavljenic-Rukavina
Keyword(s):  
Genetic Testing ◽  
Clinical Medicine ◽  
Genetic Diseases ◽  
Molecular Genetic ◽  
Fetal Brain ◽  
Clinical Findings ◽  
Ultrasound Assessment ◽  
Molecular Aspects ◽  
Genetically Determined ◽  
Risk Determinants

Abstract Molecular aspects of genetic diseases that affect the nervous system are in the focus of scientific interest investigators from many fields of medicine and the knowledge of genetic abnormalities as well as phenotypic heterogeneity is rapidly expanding. This review is aimed to provide clinician's practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings. Additionally some risk determinants are included in order to elucidate its contribution to molecular mechanism underlying the disease development. Making a specific diagnosis of a genetically determined neurological disorder or defects requires access to a laboratory that can assist in arranging for appropriate testing to be carried out. Therefore this review contains technological aspects of molecular genetic testing, international guidelines and policies related to genetic testing and recommendation for application in clinical medicine.

scholarly journals Identification of a Large Deletion, Spanning Exons 4 to 11 of the Human Factor XIIIA Gene, in a Factor XIII-Deficient Family

Blood ◽  
1998 ◽  
Vol 91 (1) ◽  
pp. 149-153 ◽  
Author(s):  
Rashida Anwar ◽  
Krzysztof J.A. Miloszewski ◽  
Alexander F. Markham
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Point Mutations ◽  
Autosomal Recessive Disorder ◽  
Large Deletion ◽  
Factor Xiiia ◽  
Paternal Allele ◽  
Bleeding Tendency ◽  
Genetic Studies ◽  
Polymerase Chain

Inherited deficiency of factor XIIIA subunit (FXIIIA) is an autosomal recessive disorder that is characterized by a life-long bleeding tendency and complications in wound healing. Molecular genetic studies have shown the deficiency can be due to small sequence changes within the FXIIIA gene, such as point mutations or microdeletions. On molecular analysis of the FXIIIA gene in an FXIII-deficient patient, of United Kingdom origin, we identified a putative homozygous missense mutation, Arg408Gln. However, the father of this patient is homozygous normal for arginine at codon 408. Having proved paternity in this pedigree by microsatellite analysis, we examined the FXIIIA RNA of the patient by reverse transcriptase-polymerase chain reaction and found the paternal allele to lack exons 4 through 11 inclusive. Hence, a huge deletion extending from intron 3 to intron 11 and the Arg408Gln mutation are jointly responsible for FXIIIA deficiency in this family. This is the first finding of such a large deletion in the FXIIIA gene.

scholarly journals Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India

2013 ◽  
Vol 04 (02) ◽  
pp. 227-229 ◽  
Author(s):  
Lakshya J Basumatary ◽  
Marami Das ◽  
Munindra Goswami ◽  
Ashok K Kayal
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Dna Analysis ◽  
Hot Spot ◽  
Dystrophin Gene ◽  
Northeast India ◽  
Deletion Rate ◽  
Study Population ◽  
Deletion Pattern ◽  
Polymerase Chain

ABSTRACTDuchenne muscular dystrophy (DMD) is an X‑linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene. In this paper, we have reported DNA analysis of DMD patients by multiplex polymerase chain reaction (PCR) from various states of northeast India. Of the 69 clinically suspected patients of DMD, deletion was detected by multiplex PCR in 49 (71%) patients. Majority of the deletions (42/49, 85.7%) were located at distal hot spot region that encompasses exons 44-55 and 14.3% of the deletions were located at the proximal hot spot region (exons 2-19). In this study population, the deletion rate was 71% and was more frequent in the distal end exon.

Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome

2021 ◽  
Vol 14 (6) ◽  
pp. e243415
Author(s):  
Phudit Jatavan ◽  
Theera Tongsong ◽  
Kuntharee Traisrisilp
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Clinical Findings ◽  
Serum Biomarkers ◽  
Provisional Diagnosis ◽  
Unique Case ◽  
Clinical Criteria ◽  
Placental Mesenchymal Dysplasia

We describe a unique case of Beckwith-Wiedemann syndrome (BWS). A 29-year-old woman with ultrasound and clinical findings, specific to BWS is described. Important insights gained from this study are as follows: (1) quad test may be very useful to increase awareness of BWS. This is the first report, which demonstrated that elevated inhibin-A is related to BWS. Unexplained elevation of serum biomarkers, especially all the four markers, should raise awareness of BWS. (2) Early provisional diagnosis in this case was based on the findings of omphalocele, placental mesenchymal dysplasia and abnormal quad test. (3) Follow-up scans are important for late-occurring supportive findings, such as macroglossia, ear abnormalities and visceromegaly. (4) BWS is strongly associated with preeclampsia, which tended to be more severe and of earlier-onset. (5) Molecular genetic analysis is helpful, but not always necessary in cases of fulfilment of clinical criteria like in this case.

Senior-Løken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy

2020 ◽  
Vol 13 (10) ◽  
pp. e236137
Author(s):  
Yuri Hirai ◽  
Aya Mizumoto ◽  
Kensuke Mitsumoto ◽  
Takashi Uzu
Keyword(s):  
Renal Failure ◽  
Molecular Genetic ◽  
Homozygous Deletion ◽  
Molecular Genetic Analysis ◽  
Inherited Disease ◽  
Hypertensive Disorders Of Pregnancy ◽  
Gene Encoding ◽  
Hypertensive Disorders ◽  
Basement Membrane Thickening ◽  
End Stage

A 31-year-old woman with retinitis pigmentosa who had been diagnosed with renal failure due to nephrosclerosis related to hypertensive disorders of pregnancy was referred to our hospital to prepare for renal replacement therapy. Ultrasonography and MRI of the kidneys revealed multiple corticomedullary cysts. A renal biopsy showed that the tubules were tortuous and atrophic with segmented tubular basement membrane thickening. These findings indicated that she had Senior-Løken syndrome. A molecular genetic analysis was performed, and homozygous deletion of the gene encoding nephronophthisis-1 was found. Thus, the clinical diagnosis of Senior-Løken syndrome was genetically confirmed. Because her renal function was gradually worsening, she was scheduled to undergo living donor kidney transplantation. Senior-Løken syndrome, which is recognised as a very rare paediatric inherited disease characterised by nephronophthisis and eye problems, can cause adult-onset end-stage renal failure.

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