التفاصيل البيبلوغرافية
| العنوان: |
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. |
| المؤلفون: |
Cabrita Pinto, Rute Luísa1 (AUTHOR), Viaggi, Silvia1,2 (AUTHOR), Canale, Edoardo3 (AUTHOR), Martinez Popple, Marina3 (AUTHOR), Capra, Valeria4 (AUTHOR), Conteduca, Giuseppina1 (AUTHOR), Testa, Barbara1 (AUTHOR), Coviello, Domenico1 (AUTHOR) domenicocoviello@gaslini.org, Covone, Angela Elvira1 (AUTHOR) |
| المصدر: |
Genes. Apr2023, Vol. 14 Issue 4, p810. 7p. |
| مصطلحات موضوعية: |
*JOUBERT syndrome, *MISSENSE mutation, *GENETIC variation, *CHILD patients, *DEVELOPMENTAL delay |
| مستخلص: |
The CC2D2A gene is essential for primary cilia formation, and its disruption has been associated with Joubert Syndrome-9 (JBTS9), a ciliopathy with typical neurodevelopmental features. Here, we describe an Italian pediatric patient with typical features of Joubert Syndrome (JBTS): "Molar Tooth Sign", global developmental delay, nystagmus, mild hypotonia, and oculomotor apraxia. Whole exome sequencing and segregation analysis identified in our infant patient a novel heterozygous germline missense variant c.3626C > T; p.(Pro1209Leu) inherited from the father and a novel 7.16 kb deletion inherited from the mother. To the best of our knowledge, this is the first report showing a novel missense and deletion variant involving exon 30 of the CC2D2A gene. [ABSTRACT FROM AUTHOR] |
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