A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome.

IF 0.4 Q4 PEDIATRICS
Carmen Palma Milla, Pérez Mohand Patricia, José M Lezana, Jaime Cruz, Juan F Quesada, Sara Vila, Isabel Álvarez-Mora, Ana Arteche-López, Irene Gómez-Manjón, M Teresa Sánchez, Maria José Gómez-Rodríguez, Jaime Sánchez, Marta Moreno-García
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引用次数: 0

Abstract

Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such as Toriello-Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis. It has been called MN1 C-terminal truncation (MCTT) syndrome or CEBALID (Craniofacial defects, dysmorphic Ears, Brain Abnormalities, Language delay, and Intellectual Disability) and suggested to be caused by dominantly acting truncated protein MN1 instead of haploinsufficiency. As a proto-oncogene, MN1 is also involved in familial meningioma. In this study, we present a novel case of MCTT syndrome in a female patient presenting with craniofacial anomalies and rhombencephalosynapsis, harboring a de novo pathogenic variant in the MN1 gene: c.3686_3698del, p.(Met1229Argfs*87).

一种新的MN1基因致病变异在一名表现为菱脑突触和颅面异常的患者中,扩大了MN1 c端截断综合征。
脑膜瘤-1是一种调节哺乳动物上颚发育的转录激活因子,也是成骨细胞增殖、运动、分化和功能发育所必需的。涉及MN1基因的微缺失与颅面异常等综合征有关,如托里洛-凯里综合征。最近,MN1转录因子c端部分的截断变异与颅面异常和部分菱形脑突触(一种罕见的脑畸形,其特征是小脑半球中线融合,小脑蚓部部分或完全丧失)的特征性和独特表型有关。它被称为MN1 c端截断(MCTT)综合征或CEBALID(颅面缺陷、畸形耳、脑异常、语言延迟和智力残疾),并被认为是由主要作用的截断蛋白MN1而不是单倍功能不全引起的。作为原癌基因,MN1也参与家族性脑膜瘤。在本研究中,我们报告了一例新的MCTT综合征女性患者,表现为颅面异常和斜形脑突触,携带MN1基因的新致病变异:c.3686_3698del, p.(Met1229Argfs*87)。
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来源期刊
自引率
0.00%
发文量
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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