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In this report, we describe five individuals from two Canadian Inuit families originating from different communities in Nunavik all affected with FADS and harboring a rare homozygous missense variant, [NM_181789.4:c.82G\u2009&gt;C p.(Ala28Pro)] in <jats:italic>GLDN<\/jats:italic>. Two pregnancies presented with significant obstetrical complications including placental abruption and hemorrhage. Four infants died shortly after birth, while one survived past the neonatal period. This individual, while apparently asymptomatic during infancy, then presented with progressive neuromuscular and respiratory compromise that became more evident in adolescence. Data from a Nunavik Inuit cohort demonstrated a minor allele frequency (MAF) of 0.03571 for this variant compared to 0.00001341 in the general population, suggesting a founder effect in the Nunavik Inuit population. Our findings support the presence of a founder variant associated with LCCS11 in Nunavik Inuit populations. Our data corroborate those of other reports, demonstrating that LCCS11 is not universally lethal, but long\u2010term survivors are at risk of progressive neuromuscular compromise. We also highlight in this report the significant obstetrical complications associated with this fetal\u2010onset condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.63974","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T11:09:10Z","timestamp":1734952150000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a Founder <scp><i>GLDN<\/i><\/scp> Variant Associated With \u201cLethal\u201d Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long\u2010Term Survivors' Management"],"prefix":"10.1002","volume":"197","author":[{"given":"Alexa","family":"McAdam","sequence":"first","affiliation":[{"name":"Division of Medical Sciences University of Victoria  Victoria British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko A.","family":"Ito","sequence":"additional","affiliation":[{"name":"Division of Genome Diagnostics BC Children's and BC Women's Hospital  Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn","family":"Richard","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Specialized Medicine McGill University Health Centre  Montreal Quebec Canada"},{"name":"Department of Human Genetics, Faculty of Medicine and Health Sciences McGill University  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Spiegelman","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire m\u00e8re\u2010Enfant Sainte\u2010Justine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Rochefort","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute\u2014Hospital McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9667-4581","authenticated-orcid":false,"given":"Lan","family":"Xiong","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute\u2014Hospital McGill University Health Centre  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Oskoui","sequence":"additional","affiliation":[{"name":"Centre for Outcomes Research and Evaluation Research Institute of the McGill University Health Center  Montreal Quebec Canada"},{"name":"Department of Pediatrics and Neurology &amp; 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