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The study of apparently balanced chromosomal rearrangements (BCRs) is a cytogenetic strategy used to identify candidate genes associated with Mendelian diseases or abnormal phenotypes. With the improved development of genomic technologies, new methods refine this search, allowing better delineation of breakpoints as well as more accurate genotype-phenotype correlation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present a boy with a global development deficit, delayed speech development and an ASD (Asperger) family history, with an apparently balanced \u201cde novo\u201d reciprocal translocation [t(1;8)(p32.2;q13)dn]. The cytogenetic molecular study identified a likely pathogenic deletion of 21\u00a0kb in the 15q12 region, while mate pair sequencing identified gene-truncations at both the 1p32.2 and 8q13 translocation breakpoints.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The identification of a pathogenic alteration on 15q12 involving <jats:italic>GABRA5<\/jats:italic> was likely the main cause of the ASD-phenotype. Importantly, the chr8 translocation breakpoint truncating <jats:italic>SLCO5A1<\/jats:italic> exclude <jats:italic>SLCO5A1<\/jats:italic> as a candidate for MSS, leaving <jats:italic>SULF1<\/jats:italic> as the primary candidate. However, the deletions observed in MSS remove a topological associated domain (TAD) boundary separating <jats:italic>SULF1<\/jats:italic> and <jats:italic>SLCO5A1.<\/jats:italic> Hence, Mesomelia-Synostoses syndrome is either caused by haploinsufficiency of <jats:italic>SULF1<\/jats:italic> or ectopic enhancer effects where skeletal\/chrondrogenic <jats:italic>SULF1<\/jats:italic> enhancers drive excopic expression of developmental genes in adjacent TADs including <jats:italic>PRDM14, NCOA2<\/jats:italic> and\/or <jats:italic>EYA1<\/jats:italic>.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-024-00684-2","type":"journal-article","created":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T23:02:21Z","timestamp":1720738941000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?"],"prefix":"10.1186","volume":"17","author":[{"given":"Ingrid","family":"Bendas Feres Lima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00facia de","family":"F\u00e1tima Marques de Moraes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Roberto da Fonseca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Clinton Llerena Junior","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mana","family":"Mehrjouy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elenice","family":"Ferreira Bastos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,12]]},"reference":[{"issue":"1","key":"684_CR1","doi-asserted-by":"publisher","first-page":"e0169935","DOI":"10.1371\/journal.pone.0169935","volume":"12","author":"C Aristidou","year":"2017","unstructured":"Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, et al. 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So ethics approval was not required. Written informed consent was obtained from the patient for publication of the case details and accompanying images.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing of interests"}}],"article-number":"15"}}