Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley N.; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne‐Claude; Lévy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaëtan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis‐Girod, Sophie; Sacoto, María J. Guillen; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; Chehadeh, Salima El; Alembik, Yves; Bruel, Ange‐Line; Lehalle, Daphné; Nambot, Sophie; Moutton, Sébastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christèle; Hilhorst‐Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Wassink-Ruiter, Jolien S. Klein; Bijlsma, Emilia K.; Hoffer, Mariëtte J.V.; Vargas, Marcelo Alves; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bértoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard Y.; Bressi, Rebekah; Russo, Rossana Sanchez; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londoño, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogné, Benjamin; Kuechler, Alma; Piton, Amélie; Klee, Eric W.; Lefebvre, Véronique; Clark, Karl J.; Depienne, Christel

doi:10.1038/s41436-019-0657-0

Cited by 26 publications

(55 citation statements)

References 42 publications

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“…Furthermore, SOX5 variants with nonsense mutations or missense mutations within the HMG were localized cytoplasmically, unable to bind DNA, and failed to activate gene expression. While molecular studies demonstrated that some SOX5 variants could still activate target gene expression and other variants could not, the study could not identify any genotype-phenotype correlation among LAMSHF patients (Zawerton et al, 2020).…”

Section: Lamb-shaffer Syndromementioning

confidence: 72%

“…Lamb-Shaffer syndrome (LAMSHF) is classified as a neurodevelopmental disorder with common phenotypes including: developmental delays, intellectual disability, and language/motor deficits (Lamb et al, 2012). Patients also have a signature set of craniofacial features: micrognathia, prominent chin, thinned upper lip, broad/full nasal tip, and epicanthus (Zawerton et al, 2020). Mutations in SOX5, a member of the SoxD family, have been linked with LAMSHF.…”

Section: Lamb-shaffer Syndromementioning

confidence: 99%

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Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development

Schock

LaBonne

2020

Front. Physiol.

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Sox transcription factors play many diverse roles during development, including regulating stem cell states, directing differentiation, and influencing the local chromatin landscape. Of the twenty vertebrate Sox factors, several play critical roles in the development the neural crest, a key vertebrate innovation, and the subsequent formation of neural crest-derived structures, including the craniofacial complex. Herein, we review the specific roles for individual Sox factors during neural crest cell formation and discuss how some factors may have been essential for the evolution of the neural crest. Additionally, we describe how Sox factors direct neural crest cell differentiation into diverse lineages such as melanocytes, glia, and cartilage and detail their involvement in the development of specific craniofacial structures. Finally, we highlight several SOXopathies associated with craniofacial phenotypes.

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Section: Lamb-shaffer Syndromementioning

confidence: 72%

Section: Lamb-shaffer Syndromementioning

confidence: 99%

Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development

Schock

LaBonne

2020

Front. Physiol.

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“…Sox5 has been extensi vely linked to neuronal differentiation, patterning, and stem cell maintenance ( Lefebvre, 2010 ). Its dysregulation in humans has been implicated in Lamb-Shaffer syndrome and ASD, both neurodevelopmental disorder ( Kwan, 2013 ; Zawerton et al, 2020 ). 102 genes were associated with 10 phenotypes, and 105 genes were associated with 9 phenotypes.…”

Section: Resultsmentioning

confidence: 99%

Action detection using a neural network elucidates the genetics of mouse grooming behavior

Geuther

Peer

et al. 2020

Preprint

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Automated detection of complex animal behaviors remains a challenging problem in neuroscience, particularly for behaviors that consist of disparate sequential motions. Grooming, a prototypical stereotyped behavior, is often used as an endophenotype in psychiatric genetics. Using mouse grooming behavior as an example, we develop a general purpose neural network architecture capable of dynamic action detection at human observer-level performance and operate across dozens of mouse strains with high visual diversity. We provide insights into the amount of human annotated training data that are needed to achieve such performance. We survey grooming behavior in the open field in 2500 mice across 62 strains, determine its heritable components, conduct GWAS to outline its genetic architecture, and perform PheWAS to link human psychiatric traits through shared underlying genetics. Our general machine learning solution that automatically classifies complex behaviors in large datasets will facilitate systematic studies of mechanisms underlying these behaviors.

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“…Clinically, LAMSHF syndrome is mainly characterized by developmental delay, speech delay, intellectual disability, and behavioral disturbances, with other corroborating features such as ophthalmologic and skeletal abnormalities (Zawerton, Mignot, et al, 2019a). The clinical spectrum is broad, without clear genotype–phenotype correlations.…”

Section: Sex Ethnic Origin Age At Last Examination (Yrs) Variant Typementioning

confidence: 99%

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)

Innella

Greco

Carli

et al. 2020

American J of Med Genetics Pt A

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Cited by 26 publications

References 42 publications

Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development

Sorting Sox: Diverse Roles for Sox Transcription Factors During Neural Crest and Craniofacial Development

Action detection using a neural network elucidates the genetics of mouse grooming behavior

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)

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