ArticleAmerican journal of medical genetics. Part A2017
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.The FEBS journal · 2025Article
- Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.Nature communications · 2022Article
- Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.Human molecular genetics · 2022Article
- Genetic analysis of ALS cases in the isolated island population of Malta.European journal of human genetics : EJHG · 2021Article
- Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.Molecular genetics & genomic medicine · 2020Article
- Pena-Shokeir syndrome: current management strategies and palliative care.The application of clinical genetics · 2018Review
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Mutations in GLE1 underlie Lethal Congenital Contracture syndrome (LCCS) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD). Both LCCS and LAAHD are characterized by reduced fetal movements, congenital contractures, and a severe form of motor neuron disease that results in fetal death or death in the perinatal period, respectively. We identified bi-allelic mutations in GLE1 in two unrelated individuals with motor delays, feeding difficulties, and respiratory insufficiency who survived beyond the perinatal period. Each affected child had missense variants predicted to result in amino acid substitutions near the C-terminus of GLE1 that are predicted to disrupt protein-protein interaction or GLE1 protein targeting. We hypothesize that mutations that preserve function of the coiled-coil domain of GLE1 cause LAAHD whereas mutations that abolish the function of the coiled-coil domain cause LCCS. The phenotype of LAAHD is now expanded to include multiple individuals surviving into childhood suggesting that LAAHD is a misnomer and should be re-named Arthrogryposis with Anterior Horn Cell Disease (AAHD).
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