A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report
Abstract Background Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF is characterize by developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and skele...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-04-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-023-00395-0 |
| _version_ | 1797841017900105728 |
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| author | Jose Cuenca Alcocel Elena Criado Álamo Elvira Salvador-Rupérez Nuria Goñi Ros Silvia Izquierdo Álvarez Jose Luis Peña Segura Ricardo González-Tarancón |
| author_facet | Jose Cuenca Alcocel Elena Criado Álamo Elvira Salvador-Rupérez Nuria Goñi Ros Silvia Izquierdo Álvarez Jose Luis Peña Segura Ricardo González-Tarancón |
| author_sort | Jose Cuenca Alcocel |
| collection | DOAJ |
| description | Abstract Background Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF is characterize by developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and skeletal abnormalities. Case presentation We presented a case of a child with delayed psychomotor development in all areas, scoliosis, peculiar facies, and suspicion of intermittent endotropia, alteration in the alignment of one foot and difficulty in standing. These clinical features lead to genetics studies, in which a novel pathogenic variant in the SOX5 gene was detected in association with LAMSHF. Conclusions LAMSHF should be suspected in patients with developmental delay, speech delay, intellectual disability, behavioural disturbances, ophthalmological alterations and skeletal abnormalities. A novel pathogenic mutation in the SOX5 gene c.1627del p.(Tyr543IlefsTer14) was identified in this patient as responsible of Lamb–Shaffer syndrome. This case contributes to understanding the genetic characteristics, clinical features, and diagnosis of LAMSHF. |
| first_indexed | 2024-04-09T16:24:05Z |
| format | Article |
| id | doaj.art-9993d9e32479434ea854f905a57c64c2 |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-04-09T16:24:05Z |
| publishDate | 2023-04-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-9993d9e32479434ea854f905a57c64c22023-04-23T11:19:24ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412023-04-012411610.1186/s43042-023-00395-0A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case reportJose Cuenca Alcocel0Elena Criado Álamo1Elvira Salvador-Rupérez2Nuria Goñi Ros3Silvia Izquierdo Álvarez4Jose Luis Peña Segura5Ricardo González-Tarancón6Department of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas, University Hospital Miguel ServetDepartment of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas, University Hospital Miguel ServetDepartment of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas, University Hospital Miguel ServetDepartment of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas, University Hospital Miguel ServetDepartment of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas, University Hospital Miguel ServetDepartment of Pediatrics, Neurometabolism Unit, University Hospital Miguel ServetDepartment of Clinical Biochemistry, Clinical Genetic Laboratory, Consultas Externas, University Hospital Miguel ServetAbstract Background Lamb–Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by heterozygous mutation or microdeletion involving the SOX5 gene. LAMSHF is characterize by developmental delay, intellectual disability, poor expressive speech, mild dysmorphic facial features and skeletal abnormalities. Case presentation We presented a case of a child with delayed psychomotor development in all areas, scoliosis, peculiar facies, and suspicion of intermittent endotropia, alteration in the alignment of one foot and difficulty in standing. These clinical features lead to genetics studies, in which a novel pathogenic variant in the SOX5 gene was detected in association with LAMSHF. Conclusions LAMSHF should be suspected in patients with developmental delay, speech delay, intellectual disability, behavioural disturbances, ophthalmological alterations and skeletal abnormalities. A novel pathogenic mutation in the SOX5 gene c.1627del p.(Tyr543IlefsTer14) was identified in this patient as responsible of Lamb–Shaffer syndrome. This case contributes to understanding the genetic characteristics, clinical features, and diagnosis of LAMSHF.https://doi.org/10.1186/s43042-023-00395-0LAMSHSOX5p.(Tyr543IlefsTer14)Developmental delayNeurodevelopmental delay |
| spellingShingle | Jose Cuenca Alcocel Elena Criado Álamo Elvira Salvador-Rupérez Nuria Goñi Ros Silvia Izquierdo Álvarez Jose Luis Peña Segura Ricardo González-Tarancón A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report Egyptian Journal of Medical Human Genetics LAMSH SOX5 p.(Tyr543IlefsTer14) Developmental delay Neurodevelopmental delay |
| title | A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report |
| title_full | A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report |
| title_fullStr | A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report |
| title_full_unstemmed | A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report |
| title_short | A novel mutation in the SOX5 gene c.1627del; p.(Tyr543IlefsTer14) is associated to Lamb–Shaffer syndrome: a case report |
| title_sort | novel mutation in the sox5 gene c 1627del p tyr543ilefster14 is associated to lamb shaffer syndrome a case report |
| topic | LAMSH SOX5 p.(Tyr543IlefsTer14) Developmental delay Neurodevelopmental delay |
| url | https://doi.org/10.1186/s43042-023-00395-0 |
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