{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:29:19Z","timestamp":1780568959622,"version":"3.54.1"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T00:00:00Z","timestamp":1586995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the <jats:italic>NBAS<\/jats:italic> gene and is characterized by severe postnatal growth retardation, senile facial appearance, small hands and feet, optic atrophy with loss of visual acuity and color vision, and normal intelligence (OMIM #614800). The presence of Pelger\u2010H\u00fcet anomaly in this disorder led to its name as an acronym for <jats:styled-content>S<\/jats:styled-content>hort stature, <jats:styled-content>O<\/jats:styled-content>ptic nerve atrophy, and <jats:styled-content>P<\/jats:styled-content>elger\u2010<jats:styled-content>H<\/jats:styled-content>\u00fcet anomaly. Recent publications have further contributed to the characterization of this syndrome through additional phenotype\u2013genotype correlations. We review the clinical features described in these publications and report on a 27\u2010year\u2010old woman with dwarfism with osteolysis and multiple skeletal problems, minor anomalies, immunodeficiency, diabetes mellitus, and multiple secondary medical problems. Her condition was considered an unknown autosomal recessive disorder for many years until exome sequencing provided the diagnosis by revealing a founder disease\u2010causing variant that was compound heterozygous with a novel pathogenic variant in <jats:italic>NBAS<\/jats:italic>. Based on the major clinical features of this individual and others reported earlier, a revision of the acronym is warranted to facilitate clinical recognition.<\/jats:p>","DOI":"10.1002\/ajmg.a.61597","type":"journal-article","created":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T11:59:03Z","timestamp":1587038343000},"page":"1767-1775","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Severe <scp>SOPH<\/scp> syndrome due to a novel <i>NBAS<\/i> mutation in a <scp>27\u2010year\u2010old<\/scp> woman\u2014Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6231-4967","authenticated-orcid":false,"given":"Yves","family":"Lacassie","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics LSU Health Sciences Center and Children's Hospital  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt","family":"Johnson","sequence":"additional","affiliation":[{"name":"INVITAE  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9933-1253","authenticated-orcid":false,"given":"Guillermo","family":"Lay\u2010Son","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Cl\u00ednica Alemana y Divisi\u00f3n de Pediatr\u00eda Escuela de Medicina Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Quintana","sequence":"additional","affiliation":[{"name":"INVITAE  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"King","sequence":"additional","affiliation":[{"name":"Department of Orthopedics LSU Health Sciences Center and Children's Hospital  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Cortes","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica, INTA, Universidad de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Alvarez","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda Cl\u00ednica Alemana and Facultad de Medicina Cl\u00ednica Alemana\u2010Universidad del Desarrollo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Gomez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology LSU Health Sciences Center and Children's Hospital  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Vargas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology LSU Health Sciences Center and Children's Hospital  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart","family":"Chalew","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology LSU Health Sciences Center and Children's Hospital  New Orleans Louisiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandra","family":"King","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda Cl\u00ednica Alemana and Facultad de Medicina Cl\u00ednica Alemana\u2010Universidad del Desarrollo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Guardia","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda Cl\u00ednica Alemana and Facultad de Medicina Cl\u00ednica Alemana\u2010Universidad del Desarrollo  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo U.","family":"Sorensen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Immunology LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana and Honorary Professor Universidad de la Frontera  Temuco Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swaroop","family":"Aradhya","sequence":"additional","affiliation":[{"name":"INVITAE  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,16]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq1319"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e08-11-1104"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2016.10.023"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-017-0406-4"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.11.005"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.03.040"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23734"},{"key":"e_1_2_10_9_1","volume-title":"The child with multiple birth defects","author":"Cohen M. M.","year":"1982"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0602-8"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.05.009"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13038"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-0550"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2013.53.6607"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2019.101398"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12876-017-0636-3"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513815.2018.1509406"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.074815"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32579"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/1120672119836335"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.37"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-018-0035-5"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.06.013"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2016.09.030"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.05.005"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.12.002"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37338"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9896-7"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13476"},{"key":"e_1_2_10_30_1","first-page":"2245","article-title":"Targeted next\u2010generation sequencing reveals two novel mutations of NBAS in a patient with infantile liver failure syndrome\u20102","volume":"17","author":"Wang J.","year":"2018","journal-title":"Molecular Medicine Reports"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61597","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61597","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61597","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61597","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T05:21:15Z","timestamp":1693804875000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,16]]},"references-count":29,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/ajmg.a.61597"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61597","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,16]]},"assertion":[{"value":"2019-12-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}