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We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic <jats:italic>TBCE<\/jats:italic> variants. The clinical phenotype observed in patients with pathogenic <jats:italic>TBCE<\/jats:italic> variants is broader than previously described. Homozygous carriers of the c.100\u2009+\u20091G\u2009&gt;\u2009A variant exhibit a markedly milder clinical course, with no deviations in the calcium-phosphate metabolism and central nervous system pathology in MRI studies. Additionally, two patients manifest highly specific symptoms such as a rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia. Furthermore, cryptorchidism was observed in male patients. The identification of the pathogenic c.100\u2009+\u20091G\u2009&gt;\u2009A variant has thus far been limited to patients of Central-Eastern European descent, suggesting a potential founder mutation in this population.<\/jats:p>","DOI":"10.1007\/s13353-024-00894-9","type":"journal-article","created":{"date-parts":[[2024,8,17]],"date-time":"2024-08-17T06:32:16Z","timestamp":1723876336000},"page":"363-373","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding TBCE-related phenotype\u2014novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia"],"prefix":"10.1007","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-3657","authenticated-orcid":false,"given":"Magdalena","family":"Badura-Stronka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam Sebastian","family":"Hirschfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Globa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Winczewska-Wiktor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Potulska-Chromik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Wicher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej Robert","family":"Krawczy\u0144ski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,17]]},"reference":[{"issue":"5","key":"894_CR1","doi-asserted-by":"publisher","first-page":"527","DOI":"10.26719\/2012.18.5.527","volume":"18","author":"J Albaramki","year":"2012","unstructured":"Albaramki J, Akl K, Al-Muhtaseb A, Al-Shboul M, Mahmoud T, El-Khateeb M, Hamamy H (2012) Sanjad Sakati syndrome: a case series from Jordan. 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EG has the patient\u2019s P3 consent for publication of clinical data. A copy of the consent form is available for review by the Editor of this journal.The datasets analyzed during the current study are available from the corresponding author upon reasonable request.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}