Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant
Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) ide...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008723000170 |
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| author | Megumi Leung Meredith Sanchez-Castillo Newell Belnap Marcus Naymik Anna Bonfitto Jennifer Sloan Katie Hassett Wayne M. Jepsen Aravind Sankaramoorthy Tracy Murray Stewart Jackson R. Foley Sampathkumar Rangasamy Matthew J. Huentelman Vinodh Narayanan Keri Ramsey |
| author_facet | Megumi Leung Meredith Sanchez-Castillo Newell Belnap Marcus Naymik Anna Bonfitto Jennifer Sloan Katie Hassett Wayne M. Jepsen Aravind Sankaramoorthy Tracy Murray Stewart Jackson R. Foley Sampathkumar Rangasamy Matthew J. Huentelman Vinodh Narayanan Keri Ramsey |
| author_sort | Megumi Leung |
| collection | DOAJ |
| description | Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (SMS) gene (c.746 A>G, p.Tyr249Cys) in a male with kyphosis, seizures, and osteoporosis. His phenotype is unique in that he does not have intellectual disability (ID) but does have a mild learning disability. This case demonstrates a milder presentation of SRS and expands the phenotype beyond the reported literature. |
| format | Article |
| id | doaj-art-91170d3a24f34cd9ab844a768414c5ec |
| institution | Kabale University |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-91170d3a24f34cd9ab844a768414c5ec2024-12-18T08:55:31ZengElsevierRare2950-00872024-01-012100017Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variantMegumi Leung0Meredith Sanchez-Castillo1Newell Belnap2Marcus Naymik3Anna Bonfitto4Jennifer Sloan5Katie Hassett6Wayne M. Jepsen7Aravind Sankaramoorthy8Tracy Murray Stewart9Jackson R. Foley10Sampathkumar Rangasamy11Matthew J. Huentelman12Vinodh Narayanan13Keri Ramsey14Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesSidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD, United StatesSidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United StatesCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States; Corresponding author at: Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (SMS) gene (c.746 A>G, p.Tyr249Cys) in a male with kyphosis, seizures, and osteoporosis. His phenotype is unique in that he does not have intellectual disability (ID) but does have a mild learning disability. This case demonstrates a milder presentation of SRS and expands the phenotype beyond the reported literature.http://www.sciencedirect.com/science/article/pii/S2950008723000170Snyder-Robinson syndromeSpermine synthaseSpermidineSpermineOsteoporosisSeizures |
| spellingShingle | Megumi Leung Meredith Sanchez-Castillo Newell Belnap Marcus Naymik Anna Bonfitto Jennifer Sloan Katie Hassett Wayne M. Jepsen Aravind Sankaramoorthy Tracy Murray Stewart Jackson R. Foley Sampathkumar Rangasamy Matthew J. Huentelman Vinodh Narayanan Keri Ramsey Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant Rare Snyder-Robinson syndrome Spermine synthase Spermidine Spermine Osteoporosis Seizures |
| title | Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant |
| title_full | Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant |
| title_fullStr | Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant |
| title_full_unstemmed | Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant |
| title_short | Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant |
| title_sort | snyder robinson syndrome presenting with learning disability epilepsy and osteoporosis a novel sms gene variant |
| topic | Snyder-Robinson syndrome Spermine synthase Spermidine Spermine Osteoporosis Seizures |
| url | http://www.sciencedirect.com/science/article/pii/S2950008723000170 |
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