{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T02:14:51Z","timestamp":1783649691282,"version":"3.55.0"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pathogenic fukutin (\n                    <jats:italic>FKTN<\/jats:italic>\n                    ) variants cause different \u03b1\u2010dystroglycanopathies, ranging from Fukuyama congenital muscular dystrophy to Walker\u2013Warburg syndrome. We report a female neonate with compound heterozygous\n                    <jats:italic>FKTN<\/jats:italic>\n                    variants presenting with Walker\u2013Warburg spectrum features and severe cochlear hypoplasia with preserved basal turn. The proband presented with marked hypotonia and early respiratory compromise at birth. Trio sequencing revealed compound heterozygous\n                    <jats:italic>FKTN<\/jats:italic>\n                    variants, including a common 3\u2010kb founder insertion (NM_006731.2:c.4392_4393ins) and an early nonsense variant (NM_001079802.2:c.139C&gt;T; p.Arg47Ter). Brain magnetic resonance imaging demonstrated extensive cobblestone lissencephaly and temporal bone imaging revealed bilateral severe cochlear hypoplasia with preserved basal turn and sensorineural hearing loss. Typical Walker\u2013Warburg features such as hydrocephalus or a clear Z\u2010shaped brainstem configuration were absent. This genotype, predicted to markedly reduce FKTN activity, likely caused severe \u03b1\u2010dystroglycan dysfunction. The coexistence of cobblestone lissencephaly and cochlear hypoplasia suggests that profound \u03b1\u2010dystroglycan impairment can affect both early organogenesis and later neuronal migration through altered extracellular matrix\u2013dependent developmental signaling pathways. Overall, this case expands the phenotypic spectrum of\n                    <jats:italic>FKTN<\/jats:italic>\n                    \u2010related dystroglycanopathy and highlights inner ear malformations as an under\u2010recognized feature of severe\n                    <jats:italic>FKTN<\/jats:italic>\n                    deficiency.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70247","type":"journal-article","created":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T01:56:51Z","timestamp":1783648611000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>FKTN<\/i>\n                    <\/scp>\n                    Compound Heterozygosity Associated With Walker\u2013Warburg Spectrum Features and Severe Cochlear Hypoplasia With Preserved Basal Turn"],"prefix":"10.1002","author":[{"given":"Yuki","family":"Koyano","sequence":"first","affiliation":[{"name":"Department of Neonatology Ibaraki Children's Hospital  Mito Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rena","family":"Miura\u2010Fuchino","sequence":"additional","affiliation":[{"name":"Department of Neonatology Ibaraki Children's Hospital  Mito Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuo","family":"Kono","sequence":"additional","affiliation":[{"name":"Department of Radiology Ibaraki Children's Hospital  Mito Japan"},{"name":"Department of Radiology Tokyo Metropolitan Children's Medical Center  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Hoshino","sequence":"additional","affiliation":[{"name":"Department of Neonatology Ibaraki Children's Hospital  Mito Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Iwabuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ibaraki Children's Hospital  Mito Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daigo","family":"Kajikawa","sequence":"additional","affiliation":[{"name":"Department of Neonatology Ibaraki Children's Hospital  Mito Japan"},{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02814"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm212"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21006"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.05\u20105424rev"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02002"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.71"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/28653"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2303"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20643"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234\u2010025\u201003671\u20105"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00837"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00838"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20973"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.4274\/balkanmedj.2017.0367"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa174"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A6858"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741\u20104520.2003.tb01033.x"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.07.012"}],"container-title":["American 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