Abnormalities of Corpus Callosum in Patients With Inherited Metabolic Diseases

Bamforth, Fiona; Bamforth, Stephen; Poskitt, Kenneth J.; Applegarth, Derek A.; Hall, Judith G.

doi:10.1016/s0140-6736(88)90437-0

Cited by 35 publications

(17 citation statements)

References 3 publications

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“…Dobyns (1989) reported an association between hyperglycinemia and agenesis of the CC (see also Kolodny, 1989) and reviewed other cases. A possible link between inherited metabolic disorders and callosal agenesis or dysgenesis has also been noted by others (Bamforth et al, 1988;Jeret et al, 1985;Johnson andJones, 1985;Sadowsky and Reeves, 1975), and seems to present in Shapiro's syndrome as weil.…”

Section: Other Syndromes and Malformations Associated With Agenesis Osupporting

confidence: 57%

Genetically Defined Animal Models of Neurobehavioral Dysfunctions

Driscoll¹

1992

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Section: Other Syndromes and Malformations Associated With Agenesis Osupporting

confidence: 57%

Genetically Defined Animal Models of Neurobehavioral Dysfunctions

Driscoll¹

1992

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“…The etiology of ACC is thus heterogeneous and multifactorial, and both autosomal recessive and X-linked recessive mechanisms have been described [9] (see also Online Mendelian Inheritance in Man [OMIM, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM]). ACC is associated with certain chromosomal rearrangements [9] and occurs as a component of other genetic syndromes [10] and metabolic conditions [11], but its genetic heterogeneity and phenotypic pleiotropy have limited identification of the responsible genes to only a few of the more than 20 distinct loci that are associated with ACC, including one on the short arm of Chromosome 1 [12]. …”

Section: Introductionmentioning

confidence: 99%

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

et al. 2007

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Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia−/− knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia +/− and Nfia −/− phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia +/− and Nfia −/− mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects.

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“…ACC can be associated with other cerebral and extracerebral malformations. In addition, ACC can be associated with chromosomal rearrangements [ 7 ] and can occur as a component of genetic syndromes [ 6 ] and metabolic conditions [ 1 ]. Its causal heterogeneity and variable phenotypic expression have limited the identification of causative genes.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32^a

Shek

Tan

Ding

et al. 2013

Case Reports in Perinatal Medicine

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We present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data.

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Abnormalities of Corpus Callosum in Patients With Inherited Metabolic Diseases

Cited by 35 publications

References 3 publications

Genetically Defined Animal Models of Neurobehavioral Dysfunctions

Genetically Defined Animal Models of Neurobehavioral Dysfunctions

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32^a

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Abnormalities of Corpus Callosum in Patients With Inherited Metabolic Diseases

Cited by 35 publications

References 3 publications

Genetically Defined Animal Models of Neurobehavioral Dysfunctions

Genetically Defined Animal Models of Neurobehavioral Dysfunctions

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects

Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32a

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Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32^a