scholarly journals Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2

2011 ◽  
Vol 155 (7) ◽  
pp. 1574-1580 ◽  
Author(s):  
Melissa B. Ramocki ◽  
Fernando Scaglia ◽  
Pawel Stankiewicz ◽  
John W. Belmont ◽  
Jeremy Y. Jones ◽  
...  
Keyword(s):  
Partial Rhombencephalosynapsis

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

2021 ◽  
Author(s):  
Carmen Palma ◽  
Pérez Mohand Patricia ◽  
José M. Lezana ◽  
Jaime Cruz ◽  
Juan F. Quesada ◽  
...  
Keyword(s):  
De Novo ◽  
Pathogenic Variant ◽  
Craniofacial Anomalies ◽  
Osteoblast Proliferation ◽  
Terminal Portion ◽  
Transcription Activator ◽  
Palate Development ◽  
Partial Rhombencephalosynapsis ◽  
And Function ◽  
Craniofacial Defects

AbstractMeningioma-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).

scholarly journals MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Brain ◽  
2019 ◽  
Vol 143 (1) ◽  
pp. 55-68 ◽  
Author(s):  
Christopher C Y Mak ◽  
Dan Doherty ◽  
Angela E Lin ◽  
Nancy Vegas ◽  
Megan T Cho ◽  
...  
Keyword(s):  
De Novo ◽  
Critical Role ◽  
Facial Features ◽  
Persistent Trigeminal Artery ◽  
Atypical Form ◽  
Large Deletions ◽  
Exon 1 ◽  
Nonsense Mediated Mrna Decay ◽  
Environmental Causes ◽  
Partial Rhombencephalosynapsis

Abstract MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3′ region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis.

Verbal Adynamia and Conceptualization in Partial Rhombencephalosynapsis and Corpus Callosum Dysgenesis

2021 ◽  
Vol 34 (1) ◽  
pp. 38-52 ◽  
Author(s):  
Megan S. Barker ◽  
Jacquelyn L. Knight ◽  
Ryan J. Dean ◽  
Simone Mandelstam ◽  
Linda J. Richards ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Partial Rhombencephalosynapsis

Chiari II Malformation Mimicking Partial Rhombencephalosynapsis? A Case Report

2009 ◽  
Vol 9 (1) ◽  
pp. 111-114 ◽  
Author(s):  
Prasad Guntur Ramkumar ◽  
Avinash Kumar Kanodia ◽  
Ganapathy Ananthakrishnan ◽  
Richard Roberts
Keyword(s):  
Case Report ◽  
Chiari Ii Malformation ◽  
Chiari Ii ◽  
Partial Rhombencephalosynapsis

Microcephaly with Simplified Gyral Pattern Associated with Partial Rhombencephalosynapsis: A Case Report

2017 ◽  
Vol 16 (06) ◽  
pp. 400-403
Author(s):  
Jamila Mesquita ◽  
Ademar Lucas Junior
Keyword(s):  
Metabolic Disease ◽  
Case Report ◽  
Head Circumference ◽  
Rare Condition ◽  
Ischemic Damage ◽  
Mri Scan ◽  
Neurodevelopmental Delay ◽  
The Face ◽  
Partial Rhombencephalosynapsis ◽  
Congenital Microcephaly

AbstractCongenital microcephaly with simplified gyral pattern has been well documented in the literature. It is characterized by a head circumference of less than two standard deviations for age associated with abnormal sulcation. In its mild presentation, this entity is usually described as an isolated anomaly. It presumably results from a brain insult associated with hypoxic–ischemic damage, intracranial infection, or metabolic disease. Rhombencephalosynapsis is a rare condition usually consisting of vermian agenesis or severe hypogenesis, fusion of the cerebellar hemispheres, and apposition or fusion of the dentate nuclei. There are several recent studies focusing on each one of those entities individually, but they do not show any correlation/association between the two of them. This is a case report of an 8-year-old child with neurodevelopmental delay who had episodes of seizures up to 3 years of age. An MRI scan showed marked craniofacial disproportion with dominance of the face over the skull, simplified gyral pattern associated with hypogenesis of the cerebellar vermis, and communication of the folia in the posterior segments of the cerebellar hemispheres. In this case report, we will briefly discuss cerebellar embryology and the process of cortical differentiation, as well as possible associations between rhombencephalosynapsis and other brain abnormalities.

Prenatal Magnetic Resonance Imaging of Atypical Partial Rhombencephalosynapsis with Involvement of the Anterior Vermis: Two Case Reports

2015 ◽  
Vol 46 (06) ◽  
pp. 416-419 ◽  
Author(s):  
Giorgio Conte ◽  
Claudia Cesaretti ◽  
Cecilia Parazzini ◽  
Gaetano Bulfamante ◽  
Andrea Righini ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Case Reports ◽  
Resonance Imaging ◽  
Prenatal Magnetic Resonance Imaging ◽  
Partial Rhombencephalosynapsis

An Atypical Case of Chiari II Malformation Mimicking Partial Rhombencephalosynapsis

2012 ◽  
Vol 25 (5) ◽  
pp. 528-532 ◽  
Author(s):  
S. Guleria ◽  
T.G. Kelly ◽  
M. Maheshwari ◽  
H.D. Segall
Keyword(s):  
Chiari Ii Malformation ◽  
Atypical Case ◽  
Chiari Ii ◽  
Partial Rhombencephalosynapsis

Partial Rhombencephalosynapsis of the Superior Cerebellum Associated with GM1 Gangliosidosis

2007 ◽  
Vol 20 (2) ◽  
pp. 182-185
Author(s):  
S. Vattoth ◽  
T. Pandey ◽  
A. A. Al Tawari ◽  
R. Makar ◽  
J. K Ibrahim Abdulla
Keyword(s):  
Gm1 Gangliosidosis ◽  
Partial Rhombencephalosynapsis
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