{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:27Z","timestamp":1740164127754,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100001543","name":"Neurological Foundation of New Zealand","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012744","name":"Oakley Mental Health Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012744","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>We describe two brothers who presented at birth with bone growth abnormalities, followed by development of increasingly severe intellectual and physical disability, growth restriction, epilepsy, and cerebellar and brain stem atrophy, but normal ocular phenotypes. Case 1 died at 19 years of age due to chronic respiratory illnesses without a unifying diagnosis. The brother remains alive but severely disabled at 19 years of age. Whole exome sequencing identified compound heterozygous stop mutations in the<jats:italic>peroxisome biogenesis factor 7<\/jats:italic>gene in both individuals. Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1). One mutation,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mi mathvariant=\"normal\">p<\/mml:mi><mml:mo>.<\/mml:mo><mml:mi mathvariant=\"normal\">A<\/mml:mi><mml:mi mathvariant=\"normal\">r<\/mml:mi><mml:mi mathvariant=\"normal\">g<\/mml:mi><mml:msup><mml:mrow><mml:mn>232<\/mml:mn><\/mml:mrow><mml:mrow><mml:mi>\u2217<\/mml:mi><\/mml:mrow><\/mml:msup><\/mml:math>, has only been documented once before in a Japanese family, which is of interest given these two boys are of European descent. The other mutation,<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi mathvariant=\"normal\">p<\/mml:mi><mml:mo>.<\/mml:mo><mml:mi mathvariant=\"normal\">L<\/mml:mi><mml:mi mathvariant=\"normal\">e<\/mml:mi><mml:mi mathvariant=\"normal\">u<\/mml:mi><mml:msup><mml:mrow><mml:mn>292<\/mml:mn><\/mml:mrow><mml:mrow><mml:mi>\u2217<\/mml:mi><\/mml:mrow><\/mml:msup><\/mml:math>, is found in approximately 50% of RCDP1 patients. These are the first cases of RCDP1 that describe the coinheritance of the<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mi mathvariant=\"normal\">p<\/mml:mi><mml:mo>.<\/mml:mo><mml:mi mathvariant=\"normal\">A<\/mml:mi><mml:mi mathvariant=\"normal\">r<\/mml:mi><mml:mi mathvariant=\"normal\">g<\/mml:mi><mml:msup><mml:mrow><mml:mn>232<\/mml:mn><\/mml:mrow><mml:mrow><mml:mi>\u2217<\/mml:mi><\/mml:mrow><\/mml:msup><\/mml:math>and<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mi mathvariant=\"normal\">p<\/mml:mi><mml:mo>.<\/mml:mo><mml:mi mathvariant=\"normal\">L<\/mml:mi><mml:mi mathvariant=\"normal\">e<\/mml:mi><mml:mi mathvariant=\"normal\">u<\/mml:mi><mml:msup><mml:mrow><mml:mn>292<\/mml:mn><\/mml:mrow><mml:mrow><mml:mi>\u2217<\/mml:mi><\/mml:mrow><\/mml:msup><\/mml:math>mutations and demonstrate the utility of WES in cases with unclear diagnoses.<\/jats:p>","DOI":"10.1155\/2015\/454526","type":"journal-article","created":{"date-parts":[[2015,10,26]],"date-time":"2015-10-26T21:02:32Z","timestamp":1445893352000},"page":"1-4","source":"Crossref","is-referenced-by-count":1,"title":["Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1"],"prefix":"10.1155","volume":"2015","author":[{"given":"Jessie C.","family":"Jacobsen","sequence":"first","affiliation":[{"name":"Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service, Auckland City Hospital, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliet","family":"Taylor","sequence":"additional","affiliation":[{"name":"Genetic Health Service New Zealand, Auckland City Hospital, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan","family":"Swan","sequence":"additional","affiliation":[{"name":"Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shona","family":"Handisides","sequence":"additional","affiliation":[{"name":"Department of Radiology, Auckland City Hospital, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Callum","family":"Wilson","sequence":"additional","affiliation":[{"name":"Adult and Paediatric National Metabolic Service, Auckland City Hospital, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Fietz","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics, SA Pathology, North Adelaide, SA 5006, Australia"},{"name":"Department of Diagnostic Genomics, PathWest, Nedlands, WA 6009, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tessa","family":"van Dijk","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis, Academic Medical Centre, 1105 Amsterdam, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart","family":"Appelhof","sequence":"additional","affiliation":[{"name":"Department of Genome Analysis, Academic Medical Centre, 1105 Amsterdam, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosamund","family":"Hill","sequence":"additional","affiliation":[{"name":"Department of Neurology, Auckland City Hospital, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosemary","family":"Marks","sequence":"additional","affiliation":[{"name":"Developmental Paediatric Service, Starship Children\u2019s Health, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald R.","family":"Love","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell G.","family":"Snell","sequence":"additional","affiliation":[{"name":"Centre for Brain Research and School of Biological Sciences, The University of Auckland, Auckland 1010, New 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