{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:22:16Z","timestamp":1747149736011,"version":"3.40.5"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T00:00:00Z","timestamp":1692403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Contiguous <jats:italic>ABCD1<\/jats:italic>\/ <jats:italic>DXS1357E<\/jats:italic> deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, <jats:italic>ABCD1<\/jats:italic> and <jats:italic>BCAP31<\/jats:italic> (formerly known as <jats:italic>DXS1357E<\/jats:italic>). Only nine individuals with this diagnosis have been reported in the medical literature to date. Intragenic loss\u2010of\u2010function variants in <jats:italic>BCAP31<\/jats:italic> cause the deafness, dystonia, and cerebral hypomyelination syndrome (DDCH). Isolated pathogenic intragenic variants in <jats:italic>ABCD1<\/jats:italic> are associated with the most common peroxisomal disorder, X\u2010linked adrenoleukodystrophy (X\u2010ALD), a single transporter deficiency, which in its more severe cerebral form is characterised by childhood\u2010onset neurodegeneration and high levels of very\u2010long\u2010chain fatty acids (VLCFA). While increased VLCFA levels also feature in CADDS, the few patients described to date all presented as neonates with a severe phenotype. Here we report a tenth individual with CADDS, a male infant with dysmorphic facial features who was diagnosed through ultra\u2010rapid whole genome sequencing (WGS) in the setting of persistent cholestatic liver disease, sensorineural hearing loss, hypotonia and growth failure and developmental delay. Biochemical studies showed elevated VLCFA and mildly reduced plasmalogens. He died at 7\u2009months having developed pancreatic exocrine deficiency and interstitial lung disease, two features we propose to be possible extensions to the CADDS phenotype. We also review the genetic, phenotypic, and biochemical features in previously reported individuals with CADDS.<\/jats:p>","DOI":"10.1002\/jmd2.12390","type":"journal-article","created":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T09:18:31Z","timestamp":1692436711000},"page":"337-345","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Interstitial lung disease and pancreatic exocrine insufficiency in <scp>CADDS<\/scp>: Phenotypic expansion and literature review"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4191-3319","authenticated-orcid":false,"given":"Oliver","family":"Heath","sequence":"first","affiliation":[{"name":"Department of Metabolic Medicine The Royal Children's Hospital  Melbourne Australia"},{"name":"Victorian Clinical Genetics Services Murdoch Children's Research Institute  Melbourne 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