A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy

2021 ◽  
Vol 14 (7) ◽  
pp. e242341
Author(s):  
Sandra Ganchinho Lucas ◽  
Inês Vieira Santos ◽  
Filipe Jorge Pencas Alfaiate ◽  
Ireneia Lino
Keyword(s):  
Genetic Analysis ◽  
Disease Progression ◽  
Gene Mutation ◽  
Muscle Biopsy ◽  
Autosomal Recessive ◽  
Lower Limbs ◽  
Muscular Dystrophies ◽  
Disease Evolution ◽  
First Report ◽  
Miyoshi Myopathy

Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis. Electromyography showed a myopathic pattern, and muscle biopsy revealed dystrophic changes with absence of dysferlin. Genetic analysis was positive for a mutation in the c3367_3368del DYSF gene (p.Lys1123GLUFS*2). After 8 years of disease evolution the symptomatology worsened. This is the first report of this mutation of the DYSF gene identified in a non-consanguineous Portuguese family, studied over 8 years. We believe the mutation is responsible for the Miyoshi myopathy. Disease progression cannot be predicted in either the patient or carrier family because there are no similar cases previously described in the literature.

scholarly journals Myopathy of distal lower limbs: the clinical variant of Miyoshi

2003 ◽  
Vol 61 (4) ◽  
pp. 946-949 ◽  
Author(s):  
Cristiane N. Soares ◽  
Marcos R.G. de Freitas ◽  
Osvaldo J.M. Nascimento ◽  
Lenilda Ferreira da Silva ◽  
Andréa R. de Freitas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Adult Life ◽  
Lower Limbs ◽  
Leg Muscles ◽  
Early Adult Life ◽  
Three Sisters ◽  
Very High ◽  
Miyoshi Myopathy ◽  
Distal Myopathies ◽  
Autosomal Recessive Pattern

Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles. Recently gene linkage to chromosome 2p12-14 has been established. We report three sisters, born of consanguineous parents. All of them noticed weakness and atrophy of leg muscles, and could not walk on their heels. In all of them the creatine kinase concentrations were very high. The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin. There are few cases reported of Miyoshi distal dystrophy in Latin America. The Miyoshi myopathy may be distinct among the hereditary distal myopathies.

scholarly journals Robot-assisted laparoscopic surgery after placing a self-expanding metallic stent for malignant rectal obstruction: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Hiroshi Takeyama ◽  
Katsuki Danno ◽  
Takahiko Nishigaki ◽  
Masafumi Yamashita ◽  
Masami Yamazaki ◽  
...  
Keyword(s):  
Laparoscopic Surgery ◽  
Lower Abdominal Pain ◽  
Lower Limbs ◽  
Metallic Stent ◽  
Sems Placement ◽  
Robot Assisted ◽  
Colorectal Obstruction ◽  
First Report ◽  
Distended Bowel ◽  
Rectal Obstruction

Abstract Background Approximately 20% of colorectal cancer patients show complete or incomplete bowel obstruction as an early symptom. Preoperative nonsurgical decompression such as placing a self-expanding metallic stent for malignant colorectal obstruction has been shown to be effective for reducing perioperative morbidity and mortality. However, there is a lack of published studies reporting robot-assisted laparoscopic surgery (RALS) after self-expanding metallic stent (SEMS) placement for malignant rectal obstruction (MRO). To our knowledge, this is the first report to do so. Case presentation An 80-year-old man with incomplete paralysis of the lower limbs as well as bladder–rectal disorder due to a spine fracture sustained in a fall accident 26 years ago presented with lower abdominal pain and vomiting. Abdominal multi-detector computed tomography revealed an obstructive rectal tumor with distended bowel on the oral side. Emergency colonoscopy was performed, and an SEMS placed. The patency of SEMS and decompression of the distended bowel was confirmed, and elective RALS was performed 29 days after SEMS placement. To our knowledge, this is the first report of RALS after decompression with SEMS placement for MRO. Conclusions RALS after SEMS placement is a safe and feasible therapeutic strategy for MRO.

scholarly journals Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome

2000 ◽  
Vol 66 (5) ◽  
pp. 1721-1722 ◽  
Author(s):  
Mark R.H. Buddles ◽  
Rosemary L. Donne ◽  
Anna Richards ◽  
Judith Goodship ◽  
Timothy H.J. Goodship
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Mutation ◽  
Autosomal Recessive ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor H ◽  
Complement Factor ◽  
H Gene ◽  
Uremic Syndrome

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Blood ◽  
2009 ◽  
Vol 114 (8) ◽  
pp. 1655-1657 ◽  
Author(s):  
Claudio Graziano ◽  
Simona Carone ◽  
Emanuele Panza ◽  
Flora Marino ◽  
Pamela Magini ◽  
...  
Keyword(s):  
Human Development ◽  
Gene Mutation ◽  
Autosomal Dominant ◽  
Specific Gene ◽  
Autosomal Dominant Disorder ◽  
Distal Limb ◽  
Limb Defects ◽  
First Report

Abstract Hereditary thrombocythemia is a rare autosomal dominant disorder caused by mutations in either the thrombopoietin gene (TPO) or its receptor c-MPL. TPO mutations described so far lead to thrombopoietin overproduction through increased translation of m-RNA. Unilateral transverse reduction limb defects are usually sporadic and generally thought to be caused by vascular disruptions. Reports of inherited unilateral limb defects are extremely rare. In the present study, we describe a family with segregation of G185T TPO mutation in the 5′ UTR region in 4 subjects with thrombocythemia. Three of these patients also present congenital transverse limb defects. Association of these events gives a strong hint of the in vivo involvement of thrombopoietin in vasculogenesis, confirming the role of TPO in human development of the hemangioblast, the embryonic progenitor of the hematopoietic and endothelial lineages. This is the first report showing that vascular disruptions could be secondary to specific gene derangements.

scholarly journals P52 Bilateral sacroiliitis in a patient with H syndrome

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_4) ◽  
Author(s):  
Majeed Haider ◽  
Redha Ebrahim1 ◽  
Osama Alalwan
Keyword(s):  
Autosomal Recessive ◽  
Conflicts Of Interest ◽  
Autosomal Recessive Disorder ◽  
Insulin Dependent Diabetes Mellitus ◽  
Skin Lesions ◽  
Lower Limbs ◽  
Dependent Diabetes Mellitus ◽  
Insulin Dependent ◽  
New Feature ◽  
Slc29a3 Gene

Abstract Background Introduction H syndrome is a rare inherited form of histiocytosis. It is an autosomal recessive disorder caused by a mutation in SLC29A3 gene resulting in histiocytic infiltration of numerous organs. It becomes clinically apparent mostly during childhood with characteristic hyperpigmented hypertrichotic indurated skin lesions that mainly involve the lower limbs. Other reported features include Sensorineural hearing loss, heart anomalies, hepatosplenomegaly, lymphadenopathy, insulin dependent diabetes mellitus and flexion contractions of interphalangeal joints. We report sacroiliitis, a possible new feature, in a young girl diagnosed with H syndrome. Methods We report the case of a 16 year-old Syrian girl diagnosed to have H syndrome presented with inflammatory polyarthritis, bilateral sacroiliitis and bilateral anterior uveitis. She was managed with methotrexate and adalimumab with significant improvement. Results The findings in our patient raise the question whether she truly has a rheumatic illness beside H syndrome, or merely represent newly recognized manifestation of H syndrome. Conclusion H syndrome is a recently recognised autosomal recessive condition with characteristic dermatologic and systemic manifestation. Along with arthritis, sacroiliitis and uveitis could represent part of the phenotypic description of this rare entity. Conflicts of Interest The authors declare no conflicts of interest.

scholarly journals Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

2001 ◽  
Vol 11 (1) ◽  
pp. 80-87 ◽  
Author(s):  
Robert Pogue ◽  
Louise V.B Anderson ◽  
Angela Pyle ◽  
Caroline Sewry ◽  
Christine Pollitt ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Muscular Dystrophies
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