口面指综合征VI型：C5orf42真的是主要基因吗？
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
作者信息
Romani Marta, Mancini Francesca, Micalizzi Alessia, Poretti Andrea, Miccinilli Elide, Accorsi Patrizia, Avola Emanuela, Bertini Enrico, Borgatti Renato, Romaniello Romina, Ceylaner Serdar, Coppola Giangennaro, D'Arrigo Stefano, Giordano Lucio, Janecke Andreas R, Lituania Mario, Ludwig Kathrin, Martorell Loreto, Mazza Tommaso, Odent Sylvie, Pinelli Lorenzo, Poo Pilar, Santucci Margherita, Signorini Sabrina, Simonati Alessandro, Spiegel Ronen, Stanzial Franco, Steinlin Maja, Tabarki Brahim, Wolf Nicole I, Zibordi Federica, Boltshauser Eugen, Valente Enza Maria
机构信息
Lab. Mendel, IRCCS Casa Sollievo della Sofferenza, Viale Regina Margherita 261, 00198, Rome, Italy,
出版信息
Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.9 %), most with a phenotype of pure JS. Only 2 out of 17 OFDVI patients (11.7 %) were mutated. A comparison of mutated vs. non-mutated OFDVI patients showed that preaxial and mesoaxial polydactyly, hypothalamic hamartoma and other congenital defects may predict C5orf42 mutations, while tongue hamartomas are more common in negative patients.
口面指综合征VI型（OFDVI）是乔伯特综合征（JS）的一种罕见表型。最近，C5orf42被认为是主要的OFDVI基因，在11个家族中的9个（82%）发生了突变。我们对313名JS先证者的C5orf42进行了测序，在28名（8.9%）中发现了突变，大多数具有单纯JS的表型。17名OFDVI患者中只有2名（11.7%）发生了突变。对发生突变与未发生突变的OFDVI患者进行比较显示，轴前和轴中多指畸形、下丘脑错构瘤及其他先天性缺陷可能预示着C5orf42突变，而舌错构瘤在未发生突变的患者中更为常见。
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