| 1 | DEL8Q24.3, PUF60
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| PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
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| Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF.
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| Eur J Hum Genet 25(5):552-559. doi: 10.1038/ejhg.2017.27. Epub 2017 Mar 22.
2017
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| 2 | DEL8Q24.3, PUF60
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| First fetal case of the 8q24.3 contiguous genes syndrome.
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| Wells C, Spaggiari E, Malan V, Stirnemann JJ, Attie-Bitach T, Ville Y, Vekemans M, Bessieres B, Romana S.
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| Am J Med Genet A 170A(1):239-42. doi: 10.1002/ajmg.a.37411. Epub 2015 Oct 5.
2016
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| 3 | DEL8Q24.3, PUF60
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| SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
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| Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N.
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| Am J Hum Genet 93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.
2013
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| 4 | DEL8Q24.3
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| An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.
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| Verheij JB, de Munnik SA, Dijkhuizen T, de Leeuw N, Olde Weghuis D, van den Hoek GJ, Rijlaarsdam RS, Thomasse YE, Dikkers FG, Marcelis CL, van Ravenswaaij-Arts CM.
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| Eur J Med Genet 52(5):353-7. doi: 10.1016/j.ejmg.2009.05.006. Epub 2009 May 21.
2009
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