An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe art...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2018-06-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=500 |
| _version_ | 1797817741118275584 |
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| author | Ameur Ammari Amal Alhashem Hanen Abdelraouf Fatma Alzahrani Fowzan Sami Alkuraya Brahim Tabarki |
| author_facet | Ameur Ammari Amal Alhashem Hanen Abdelraouf Fatma Alzahrani Fowzan Sami Alkuraya Brahim Tabarki |
| author_sort | Ameur Ammari |
| collection | DOAJ |
| description | Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts.
Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe arthrogryposis, feeding difficulties, developmental delay, retinopathy, and no cerebellar involvement.
Conclusion: Our findings are suggestive of absence of cerebellar involvement in LAMA1 mutations in some cases and phenotype may include severe arthrogryposis. [JBCGenetics 2018; 1(1.000): 43-46] |
| first_indexed | 2024-03-13T08:57:55Z |
| format | Article |
| id | doaj.art-f44696623d704e63a26f5153f4cb1f6f |
| institution | Directory Open Access Journal |
| issn | 1658-807X |
| language | English |
| last_indexed | 2024-03-13T08:57:55Z |
| publishDate | 2018-06-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj.art-f44696623d704e63a26f5153f4cb1f6f2023-05-28T13:26:19ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X2018-06-0111434610.24911/JBCGenetics/183-1531458597500An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutationAmeur Ammari0Amal Alhashem1Hanen Abdelraouf2Fatma Alzahrani3Fowzan Sami Alkuraya4Brahim Tabarki5Division of Neonatology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi ArabiaBackground: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe arthrogryposis, feeding difficulties, developmental delay, retinopathy, and no cerebellar involvement. Conclusion: Our findings are suggestive of absence of cerebellar involvement in LAMA1 mutations in some cases and phenotype may include severe arthrogryposis. [JBCGenetics 2018; 1(1.000): 43-46]http://www.ejmanager.com/fulltextpdf.php?mno=500case reportlama1 genearthrogryposiscerebellum |
| spellingShingle | Ameur Ammari Amal Alhashem Hanen Abdelraouf Fatma Alzahrani Fowzan Sami Alkuraya Brahim Tabarki An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation Journal of Biochemical and Clinical Genetics case report lama1 gene arthrogryposis cerebellum |
| title | An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation |
| title_full | An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation |
| title_fullStr | An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation |
| title_full_unstemmed | An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation |
| title_short | An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation |
| title_sort | atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel lama1 mutation |
| topic | case report lama1 gene arthrogryposis cerebellum |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=500 |
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