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1. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Cuinat, S., Nizon, M., Isidor, B., Stegmann, Alexander, Jaarsveld, R.H. van, Gassen, K.L.I. van, Smagt, J.J. van der, Volker-Touw, C.M., Holwerda, S.J.B., Terhal, P.A., Schuhmann, S., Vasileiou, G., Khalifa, M., Nugud, A.A., Yasaei, H., Ousager, L.B., Brasch-Andersen, C., Deb, W., Besnard, T., Simon, M.E., Amsterdam, K.H., Verbeek, N.E., Matalon, D., Dykzeul, N., White, S., Spiteri, E., Devriendt, K., Boogaerts, A., Willemsen, M.H., Brunner, H.G., Sinnema, M., Vries, B.B. de, Gerkes, E.H., Pfundt, R.P., Izumi, K., Krantz, I.D., Xu, Z.L., Murrell, J.R., Valenzuela, I., Cusco, I., Rovira-Moreno, E., Yang, Y., Bizaoui, V., Patat, O., Faivre, L., Tran-Mau-Them, F., Vitobello, A., Denommé-Pichon, A.S., Philippe, C., Bezieau, S., Cogné, B., Cuinat, S., Nizon, M., Isidor, B., Stegmann, Alexander, Jaarsveld, R.H. van, Gassen, K.L.I. van, Smagt, J.J. van der, Volker-Touw, C.M., Holwerda, S.J.B., Terhal, P.A., Schuhmann, S., Vasileiou, G., Khalifa, M., Nugud, A.A., Yasaei, H., Ousager, L.B., Brasch-Andersen, C., Deb, W., Besnard, T., Simon, M.E., Amsterdam, K.H., Verbeek, N.E., Matalon, D., Dykzeul, N., White, S., Spiteri, E., Devriendt, K., Boogaerts, A., Willemsen, M.H., Brunner, H.G., Sinnema, M., Vries, B.B. de, Gerkes, E.H., Pfundt, R.P., Izumi, K., Krantz, I.D., Xu, Z.L., Murrell, J.R., Valenzuela, I., Cusco, I., Rovira-Moreno, E., Yang, Y., Bizaoui, V., Patat, O., Faivre, L., Tran-Mau-Them, F., Vitobello, A., Denommé-Pichon, A.S., Philippe, C., Bezieau, S., and Cogné, B.

Abstract

Contains fulltext : 282702.pdf (Publisher’s version ) (Closed access), PURPOSE: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease. METHODS: Among the 1000 probands studied with developmental delay and intellectual disability in our database, we found 2 patients with de novo LoF variants in SRRM2. Additional families were identified through GeneMatcher. RESULTS: Here, we report on 22 patients with LoF variants in SRRM2 and provide a description of the phenotype. Molecular analysis identified 12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present. CONCLUSION: We established SRRM2 as a gene responsible for a rare neurodevelopmental disease.

Published
2022

2. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Author

Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, and Cogné B

Subjects
Child, Developmental Disabilities genetics, Humans, Muscle Hypotonia genetics, Phenotype, Intellectual Disability genetics, Neurodevelopmental Disorders genetics, RNA-Binding Proteins genetics
Abstract

Purpose: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease., Methods: Among the 1000 probands studied with developmental delay and intellectual disability in our database, we found 2 patients with de novo LoF variants in SRRM2. Additional families were identified through GeneMatcher., Results: Here, we report on 22 patients with LoF variants in SRRM2 and provide a description of the phenotype. Molecular analysis identified 12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present., Conclusion: We established SRRM2 as a gene responsible for a rare neurodevelopmental disease., Competing Interests: Conflict of Interest This work was carried out within the framework of Nantes University Medical Center activity without additional funding. One patient was diagnosed in the context of work in a private company (AiLife Diagnostics, Pearland, Texas). The other authors declare no conflicts of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Published
2022
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3. De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.

Author

Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, and Sherr EH

Subjects
Adolescent, Agenesis of Corpus Callosum physiopathology, Brain diagnostic imaging, Brain metabolism, Brain physiopathology, Child, Child, Preschool, Corpus Callosum physiopathology, Exome genetics, Female, Humans, Intellectual Disability genetics, Intellectual Disability physiopathology, Male, Mutation, Missense genetics, Neurodevelopmental Disorders physiopathology, Seizures genetics, Seizures physiopathology, Exome Sequencing, Agenesis of Corpus Callosum genetics, Cell Cycle Proteins genetics, Genetic Predisposition to Disease, Neurodevelopmental Disorders genetics, Transcription Factors genetics
Abstract

Introduction: Whole-exome sequencing (WES) has identified de novo variants in chromatin remodelling genes in patients with neurodevelopmental disorders (NDD). We report on a novel genetic discovery in chromatin remodelling in patients with NDD who also have corpus callosum (CC) anomalies., Objective: To discover novel genes linked to both CC anomalies and NDD., Methods: Clinical WES was performed for evaluation of NDD, identifying five patients with de novo variants in SUPT16H , a subunit of the FACT (facilitates chromatin transcription) complex. The clinical phenotypes, genetic results and brain MRIs were obtained and systematically reviewed. In silico protein function predictions were assessed and allele frequencies in control populations were compared., Results: We identified four patients with de novo missense variants in SUPT16H and one patient with a de novo deletion including SUPT16H . These variants were not reported in the updated Genome Aggregation Database. When assayable, all protein products were predicted to be damaging. Symptoms included intellectual disability, autistic features, minor dysmorphic features and seizures. Anomalies of the CC were seen in all three patients with available brain imaging., Conclusion: Our findings implicate the gene SUPT16H in a novel disorder characterised by neurodevelopmental deficits and CC anomalies., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Published
2020
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