{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:47:21Z","timestamp":1787021241110,"version":"build-2736575974"},"reference-count":10,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2019,11,26]],"date-time":"2019-11-26T00:00:00Z","timestamp":1574726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"MRC Clinical Scientist fellowship","award":["MR\/K010654\/1"],"award-info":[{"award-number":["MR\/K010654\/1"]}]},{"name":"Kidney Research UK Innovation","award":["JFS_IN_005_20160916"],"award-info":[{"award-number":["JFS_IN_005_20160916"]}]},{"name":"Paediatric Research","award":["Paed_RP_011_20170929"],"award-info":[{"award-number":["Paed_RP_011_20170929"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01DK078314"],"award-info":[{"award-number":["R01DK078314"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIHR Biomedical Research Centre","award":["V2218"],"award-info":[{"award-number":["V2218"]}]},{"name":"GOSH Children\u2019s Charity"},{"name":"Ministry of High Education"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Mutations in LAMB2, encoding the basement membrane protein, laminin \u03b22, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description<\/jats:title>\n                    <jats:p>This report describes a 12-year-old boy with short stature, visual impairment, and developmental delay who presented with macroscopic hematuria and albuminuria. He had isolated growth hormone deficiency, optic nerve hypoplasia, and a small anterior pituitary with corpus callosum dysgenesis on his cranial magnetic resonance imaging, thereby supporting a diagnosis of optic nerve hypoplasia syndrome. Renal histopathology revealed focal segmental glomerulosclerosis. Using next-generation sequencing on a targeted gene panel for steroid-resistant nephrotic syndrome, compound heterozygous missense mutations were identified in LAMB2 (c.737G&amp;gt;A p.Arg246Gln, c.3982G&amp;gt;C p.Gly1328Arg). Immunohistochemical analysis revealed reduced glomerular laminin \u03b22 expression compared to control kidney and a thin basement membrane on electron microscopy. Laminin \u03b22 is expressed during pituitary development and Lamb2\u2013\/\u2013 mice exhibit stunted growth, abnormal neural retinae, and here we show, abnormal parenchyma of the anterior pituitary gland.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We propose that patients with genetically undefined optic nerve hypoplasia syndrome should be screened for albuminuria and, if present, screened for mutations in LAMB2.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgz216","type":"journal-article","created":{"date-parts":[[2019,11,26]],"date-time":"2019-11-26T05:50:33Z","timestamp":1574747433000},"page":"595-599","source":"Crossref","is-referenced-by-count":12,"title":["Mutations in\n                    <i>LAMB2<\/i>\n                    Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism"],"prefix":"10.1210","volume":"105","author":[{"given":"Mona","family":"Tahoun","sequence":"first","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Alexandria University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer C","family":"Chandler","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Ashton","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Haston","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athia","family":"Hannan","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Soo","family":"Kim","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"D\u2019Arco","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Bockenhauer","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Anderson","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meei-Hua","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Washington University School of Medicine, St Louis, Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah","family":"Marzouk","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Alexandria University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwa H","family":"Saied","sequence":"additional","affiliation":[{"name":"Clinical and Chemical Pathology Department, Faculty of Medicine, Alexandria University, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey H","family":"Miner","sequence":"additional","affiliation":[{"name":"Division of Nephrology, Department of Medicine, Washington University School of Medicine, St Louis, Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul T","family":"Dattani","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, UK"},{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoife M","family":"Waters","sequence":"additional","affiliation":[{"name":"UCL Great Ormond Street Institute of Child Health, University College London, UK"},{"name":"Great Ormond Street Hospital NHS Foundation Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,11,26]]},"reference":[{"issue":"7","key":"2021122018273558500_CIT0001","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1136\/jmedgenet-2017-104626","article-title":"Genetic causes of optic nerve hypoplasia","volume":"54","author":"Chen","year":"2017","journal-title":"J Med 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