Lamb-Shaffer syndrome, caused by haploinsufficiency of SOX5, leads to a unique constellation of dysmorphic features and intellectual delay. The SOX5 family of proteins plays an integral role in neuronal development. We present the clinical traits of an 11-year-old boy with Lamb-Shaffer syndrome and highlight the ocular findings of the syndrome reported thus far in the literature. Approximately 55% of all patients reviewed had some form of ocular abnormality associated with Lamb-Shaffer syndrome, including, predominantly, strabismus as well as optic nerve abnormalities, epicanthal folds, and refractive errors, highlighting the potential significance of SOX5 on neurologic development.
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Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.
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- Lamb-Shaffer syndrome (LAMSHF) is a rare genetic neurodevelopmental disorder linked to mutations in the SOX5 gene, causing developmental delays and intellectual disabilities; only a few cases have been reported in China.
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Northwell, New Hyde Park, New York; Cohen Children's Medical Center, Queens, New York.
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- Lamb-Shaffer syndrome (LSS) is a rare genetic neurodevelopmental disorder affecting fewer than 100 people globally, specifically characterized by diverse ophthalmic issues.
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This case study illustrates a multidisciplinary diagnostic and therapeutic model of care for a 7-year-old male with Lamb-Shaffer syndrome (LAMSHF). LAMSHF is an ultra-rare genetic neurodevelopmental disorder, caused by heterozygous alterations in the SOX5 gene. An integrative model of therapy of cognitive functions and speech is described.
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Lamb-Shaffer Syndrome (LSS; OMIM #616803; ORPHA #313892; ORPHA #313884) is an infrequent genetic disorder that affects multiple aspects of human development especially those related to the development of the nervous system. LSS is caused by variants in the SOX5 gene. At the molecular level, SOX5 gene encodes for a transcription factor containing a High Mobility Group (HMG) DNA-Binding domain with relevant functions in brain development in different vertebrate species.
View Article and Find Full Text PDFSOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.
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Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
To delineate further the clinical phenotype of Lamb-Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. Clinical phenotyping tables were completed for each patient by their responsible clinical geneticist. Photos and clinical features were compared to assess key phenotypes and genotype-phenotype correlation.
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