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• W2023214181 abstract "<h3>Background</h3> Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked form of the condition has been associated with mutations in the <i>MID1</i> gene on Xp22. The autosomal dominant form has been linked to chromosome 22q11.2, although the causative gene has yet to be elucidated. <h3>Methods and results</h3> In this study, we performed whole exome sequencing on DNA samples from a three-generation family with characteristics of Opitz G/BBB syndrome with negative <i>MID1</i> sequencing. We identified a heterozygous missense mutation c.1189A>C (p.Thr397Pro) in <i>SPECC1L</i>, located at chromosome 22q11.23. Mutation screening of an additional 19 patients with features of autosomal dominant Opitz G/BBB syndrome identified a c.3247G>A (p.Gly1083Ser) mutation segregating with the phenotype in another three-generation family. <h3>Conclusions</h3> Previously, <i>SPECC1L</i> was shown to be required for proper facial morphogenesis with disruptions identified in two patients with oblique facial clefts. Collectively, these data demonstrate that <i>SPECC1L</i> mutations can cause syndromic forms of facial clefting including some cases of autosomal dominant Opitz G/BBB syndrome and support the original linkage to chromosome 22q11.2." @default.
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• W2023214181 date "2014-11-20" @default.
• W2023214181 modified "2023-10-15" @default.
• W2023214181 title "Mutations in<i>SPECC1L</i>, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome" @default.
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• W2023214181 doi "https://doi.org/10.1136/jmedgenet-2014-102677" @default.
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