{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T15:43:49Z","timestamp":1783439029690,"version":"3.54.6"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T00:00:00Z","timestamp":1583971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Health","award":["Ricerca Corrente 2019"],"award-info":[{"award-number":["Ricerca Corrente 2019"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Warburg Micro syndrome and Martsolf syndrome are phenotypically overlapping autosomal recessive conditions characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Warburg Micro syndrome, the more severe of the two conditions, is caused by loss of function mutations in <jats:italic>RAB3GAP1<\/jats:italic>, <jats:italic>RAB3GAP2<\/jats:italic>, <jats:italic>RAB18<\/jats:italic>, and <jats:italic>TBC1D20<\/jats:italic> genes, whereas Martsolf syndrome has been attributed to less damaging mutations in <jats:italic>RAB3GAP1<\/jats:italic> and <jats:italic>RAB3GAP2<\/jats:italic> genes. We report the clinical description and molecular characterization of a consanguineous Iranian family with two siblings, a male and a female, with dysmorphic features, bilateral congenital cataracts, optic nerve atrophy, congenital glaucoma, mild to moderate intellectual disability, seizures, hypogonadism, and mild osteoporosis. Spastic quadriplegia with contractures was observed in the male patient, while the female patient showed only mild hyperreflexia. Magnetic resonance imaging scans performed in the male patient showed a normal brain structure. Both siblings had neither microcephaly nor postnatal growth retardation. Whole exome sequencing identified a novel homozygous nonsense mutation [c.1060C&gt;T; p.(Arg354Ter)] in the <jats:italic>TBC1D20<\/jats:italic> gene in both siblings and confirmed the heterozygous carrier status of both parents. This report describes a novel mutation in the <jats:italic>TBC1D20<\/jats:italic> gene in two Iranian patients with Martsolf syndrome, further extending the allelic heterogeneity and phenotypic spectrum of this rare condition. The genotype and phenotype of the patients are compared with those of Martsolf syndrome and Warburg Micro syndrome patients reported in the literature.<\/jats:p>","DOI":"10.1002\/ajmg.a.61543","type":"journal-article","created":{"date-parts":[[2020,3,12]],"date-time":"2020-03-12T12:10:53Z","timestamp":1584015053000},"page":"957-961","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Martsolf syndrome with novel mutation in the <i>TBC1D20<\/i> gene in a family from Iran"],"prefix":"10.1002","volume":"182","author":[{"given":"Hossein","family":"Hozhabri","sequence":"first","affiliation":[{"name":"Medical Genetics Division Fondazione Casa Sollievo della Sofferenza, IRCCS  San Giovanni Rotondo Italy"},{"name":"Department of Experimental Medicine Sapienza University  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrdad","family":"Talebi","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Center Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Y. V.","family":"Mehrjardi","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Center Shahid Sadoughi University of Medical Sciences  Yazd Iran"},{"name":"Diabetes Research Center Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4408-8062","authenticated-orcid":false,"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Medical Genetics Division Fondazione Casa Sollievo della Sofferenza, IRCCS  San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammadreza","family":"Dehghani","sequence":"additional","affiliation":[{"name":"Medical Genetics Research Center Shahid Sadoughi University of Medical Sciences  Yazd Iran"},{"name":"Reproductive and Genetic Unit, Yazd Research and Clinical Center for Infertility Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1517"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/502681"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2015.09.006"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.012"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0896-2"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-019-03050-3"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2018.1432065"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.150047"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22296"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2015.34"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.011"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.4103\/JPN.JPN_45_17"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010305"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1993.02160360051017"}],"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.61543","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61543","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61543","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61543","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T20:46:17Z","timestamp":1694033177000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,12]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1002\/ajmg.a.61543"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61543","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,12]]},"assertion":[{"value":"2019-05-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}