Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
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Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. This condition primarily affects neurological development, causing intellectual disability, delayed development of speech and motor skills (such as sitting and walking), or autism spectrum disorder, which is a condition that affects communication and social interaction. Some affected individuals have additional neurological features, such as weak muscle tone (hypotonia), behavioural problems, and seizures.
Descrizione
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH) is a neurological disorder that can also affect many other body systems. This condition primarily affects neurological development, causing intellectual disability, delayed development of speech and motor skills (such as sitting and walking), or autism spectrum disorder, which is a condition that affects communication and social interaction. Some affected individuals have additional neurological features, such as weak muscle tone (hypotonia), behavioural problems, and seizures.
NEDBEH can affect development of many other parts of the body. Some affected individuals have abnormalities of brain structures, such as the tissue that connects the left and right halves of the brain (the corpus callosum), a tissue called white matter, the fluid-filled cavities (ventricles) near the center of the brain, or a structure at the back of the brain known as the cerebellar vermis. Eye abnormalities that can occur include a gap or hole in one of the structures of the eye (coloboma), underdevelopment (hypoplasia) or breakdown (atrophy) of the nerves that carry information from the eyes to the brain (optic nerves), or unusually small eyeballs (microphthalmia). These eye problems can cause vision impairment. Some affected individuals have heart defects, most commonly ventricular septal defect, which is a hole in the muscular wall (septum) that separates the right and left sides of the heart's lower chambers.
Less commonly, other systems are affected in NEDBEH, including the kidneys and inner ear. Problems with the inner ear can lead to hearing impairment (sensorineural hearing loss).
The signs and symptoms in some people with NEDBEH resemble those of another condition known as CHARGE syndrome; however, people with NEDBEH do not have changes in the gene associated with CHARGE syndrome.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
NEDBEH
RERE-related neurodevelopmental syndrome
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Ulteriori letture e riferimenti
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; MedlinePlus, National Library of Medicine.
- Fregeau B, Kim BJ, Hernandez-Garcia A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Baranano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14.
- Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.
- Kim BJ, Scott DA. Mouse model reveals the role of RERE in cerebellar foliation and the migration and maturation of Purkinje cells. PLoS One. 2014 Jan 23;9(1):e87518. doi: 10.1371/journal.pone.0087518. eCollection 2014.
- Kim BJ, Zaveri HP, Jordan VK, Hernandez-Garcia A, Jacob DJ, Zamora DL, Yu W, Schwartz RJ, Scott DA. RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects. Dis Model Mech. 2018 Aug 28;11(9):dmm031534. doi: 10.1242/dmm.031534.
- Kim BJ, Zaveri HP, Shchelochkov OA, Yu Z, Hernandez-Garcia A, Seymour ML, Oghalai JS, Pereira FA, Stockton DW, Justice MJ, Lee B, Scott DA. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013;8(2):e57460. doi: 10.1371/journal.pone.0057460. Epub 2013 Feb 25.
- Vilhais-Neto GC, Maruhashi M, Smith KT, Vasseur-Cognet M, Peterson AS, Workman JL, Pourquie O. Rere controls retinoic acid signalling and somite bilateral symmetry. Nature. 2010 Feb 18;463(7283):953-7. doi: 10.1038/nature08763.
- Zoltewicz JS, Stewart NJ, Leung R, Peterson AS. Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis. Development. 2004 Jan;131(1):3-14. doi: 10.1242/dev.00908. Epub 2003 Nov 26.
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