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Call for collaborative Research on developmental disorders
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These calls for collaborative projects typically aim to rapidly build up consistent clinical series for rare monogenic disorders, in order to better delineate the clinical spectrum and natural history of recently identified entities in the field of the ERN-ITHACA.
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Expanding the phenotype of SLC12A2 syndrome
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Targeted syndrom under study:
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De novo heterozygous variants in SLC12A2 affecting exon 21 are associated with non-syndromal deafness. De novo variants in other parts of the gene are associated with a neurodevelopmental disorder. Bi-allelic variants are associated with a more severe phenotype. We wish to identify further individuals with SLC12A2 variants to confirm the phenotypic spectrum.
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Coordinating clinicians/researchers
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University of Sheffield, United Kingdom
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Specific requirements beyond clinical data and genotype data sharing:
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- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: Yes (possible functional testing of variants in Delpire lab)
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