Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
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- 作者：Luigi Lainoa ; luigi.laino@uniroma1.it" class="auth_mail" title="E-mail the corresponding author ; Irene Bottilloa ; Caterina Piedimonteb ; Laura Bernardinic ; Barbara Torresc ; Barbara Grammaticoa ; Simone Bargiacchia ; Claudia Mulargiaa ; Mauro Calvanid ; Francesco Cardonab ; Marco Castoria ; Paola Grammaticoa
- 关键词：Duplication ; Facial dysmorphism ; Intragenic ; IL1RAPL1 ; X-linked intellectual disability
- 刊名：European Journal of Paediatric Neurology
- 出版年：2016
- 出版时间：November 2016
- 年：2016
- 卷：20
- 期：6
- 页码：971-976
- 全文大小：820 K
文摘
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Single patient with ID and unique intragenic rearrangement in ILRAPL1.
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Our patient suggests subtle recurrent dysmorphism in IL1RAPL1-related ID.
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In carrier mother we did not demostrate a skewed XCL favoring the mutated allele.