{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:25:11Z","timestamp":1783009511153,"version":"3.54.5"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"6","funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2023YFC2706300"],"award-info":[{"award-number":["2023YFC2706300"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0731_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Oliver-McFarlane syndrome (OMS) is an extremely rare autosomal recessive disorder primarily characterized by the triad of trichomegaly, congenital hypopituitarism, and chorioretinal degeneration. This study aims to report the clinical and genetic characteristics of the first identified Chinese sibling pair with OMS and to expand the known phenotypic spectrum by documenting a novel clinical feature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0731_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report two Chinese siblings with OMS harboring identical compound heterozygous\n                      <jats:italic>PNPLA6<\/jats:italic>\n                      variants: c.2990C&gt;T (p.Ser997Leu) and c.3367G&gt;A (p.Gly1123Arg). Both presented with growth hormone deficiency (GHD), short stature, retinitis pigmentosa, and characteristic hair anomalies. Notably, the elder brother exhibited intellectual disability and secondary adrenocortical insufficiency\u00a0\u2013\u00a0a feature not previously documented in OMS. In contrast, the younger sister had normal adrenal function and higher cognitive levels. Both patients showed a significant positive growth response to recombinant human growth hormone (rhGH) therapy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0731_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study expands the phenotypic spectrum of\n                      <jats:italic>PNPLA6<\/jats:italic>\n                      -associated OMS to include adrenocortical insufficiency and highlights significant intrafamilial variability.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0731","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T08:01:00Z","timestamp":1773820860000},"page":"622-627","source":"Crossref","is-referenced-by-count":0,"title":["New insights into Oliver\u2013McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair"],"prefix":"10.1515","volume":"39","author":[{"given":"Caiqi","family":"Du","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"},{"name":"Department of Pediatrics , Jiujiang Maternal and Child Health Hospital , Jiujiang , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Child Health Care , Xianning Central Hospital , Xianning 437000, Hubei , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aoyu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haotian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Tongji Children\u2019s Hospital, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases , Wuhan , China"},{"name":"Hubei Provincial Clinical Research Center for Child Growth, Development, and Metabolic Diseases , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"2026070215583362083_j_jpem-2025-0731_ref_001","doi-asserted-by":"crossref","unstructured":"Liu, F, Ji, Y, Li, G, Xu, C, Sun, Y. Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6. Gene 2020;761:145027. https:\/\/doi.org\/10.1016\/j.gene.2020.145027.","DOI":"10.1016\/j.gene.2020.145027"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_002","doi-asserted-by":"crossref","unstructured":"Liu, J, Hufnagel, RB. PNPLA6 disorders: what\u2019s in a name? Ophthalmic Genet 2023;44:530\u20138. https:\/\/doi.org\/10.1080\/13816810.2023.2254830.","DOI":"10.1080\/13816810.2023.2254830"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_003","doi-asserted-by":"crossref","unstructured":"Oliver, GL, McFarlane, DC. Congenital trichomegaly: with associated pigmentary degeneration of the retina, dwarfism, and mental retardation. Arch Ophthalmol 1965;74:169\u201371. https:\/\/doi.org\/10.1001\/archopht.1965.00970040171008.","DOI":"10.1001\/archopht.1965.00970040171008"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_004","doi-asserted-by":"crossref","unstructured":"Wawrocka, A, Walczak-Sztulpa, J, Kuszel, L, Niedziela-Schwartz, Z, Skorczyk-Werner, A, Bernardczyk-Meller, J, et al.. Coexistence of retinitis pigmentosa and ataxia in patients with PHARC, PCARP, and Oliver-McFarlane syndromes. Int J Mol Sci 2024;25. https:\/\/doi.org\/10.3390\/ijms25115759.","DOI":"10.3390\/ijms25115759"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_005","doi-asserted-by":"crossref","unstructured":"Kmoch, S, Majewski, J, Ramamurthy, V, Cao, S, Fahiminiya, S, Ren, H, et al.. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nat Commun 2015;6:5614. https:\/\/doi.org\/10.1038\/ncomms6614.","DOI":"10.1038\/ncomms6614"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_006","doi-asserted-by":"crossref","unstructured":"Hufnagel, RB, Arno, G, Hein, ND, Hersheson, J, Prasad, M, Anderson, Y, et al.. Neuropathy target esterase impairments cause Oliver-McFarlane and laurence-moon syndromes. J\u00a0Med Genet 2015;52:85\u201394. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102856.","DOI":"10.1136\/jmedgenet-2014-102856"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_007","doi-asserted-by":"crossref","unstructured":"Wu, S, Sun, Z, Zhu, T, Weleber, RG, Yang, P, Wei, X, et al.. Novel variants in PNPLA6 causing syndromic retinal dystrophy. Exp Eye Res 2021;202:108327. https:\/\/doi.org\/10.1016\/j.exer.2020.108327.","DOI":"10.1016\/j.exer.2020.108327"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_008","doi-asserted-by":"crossref","unstructured":"DeNaro, BB, Dhrami-Gavazi, E, Rubaltelli, DM, Freund, KB, Lee, W, Yannuzzi, LA, et al.. Chorioretinal changes in a genetically confirmed case of boucher-neuh\u00e4user syndrome. Retin Cases Brief Rep 2021;15:179\u201384. https:\/\/doi.org\/10.1097\/icb.0000000000000769.","DOI":"10.1097\/ICB.0000000000000769"},{"key":"2026070215583362083_j_jpem-2025-0731_ref_009","doi-asserted-by":"crossref","unstructured":"Haritoglou, C, Rudolph, G, Kalpadakis, P, Boergen, KP. Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9\u00a0years\u2019 follow up. Br J Ophthalmol 2003;87:119\u201320. https:\/\/doi.org\/10.1136\/bjo.87.1.119.","DOI":"10.1136\/bjo.87.1.119"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0731\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0731\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:13:28Z","timestamp":1783008808000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/jpem-2025-0731\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,19]]},"references-count":9,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,5,15]]},"published-print":{"date-parts":[[2026,6,24]]}},"alternative-id":["10.1515\/jpem-2025-0731"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2025-0731","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,19]]}}}