The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has ...
Sleep problems are common and associated with lower quality of life in children with ACC.
American journal of medical genetics. Part A
In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple...
Molecules and cells
The corpus callosum is a bundle of nerve fibers that connects the two cerebral hemispheres and is essential for coordinated transmission of information between them. Disruption of early stages of callosal development can cause agenesis of the corpus callosum (AgCC), including both complete and partial callosal absence, causing mild to severe cognit...
Agenesis of the corpus callosum (AgCC) is a congenital disorder that disrupts the development of neurological structures connecting the right and left hemispheres of the brain. In addition to neurological symptoms, many individuals with AgCC demonstrate marked deficits in social, communication, and adaptive skills. This paper presents two case stud...
Australasian psychiatry : bulletin of Royal Australian and New Zealand College of Psychiatrists
Antisocial behaviour and lying may be more commonly associated with callosal dysgenesis than is currently realised.
American journal of medical genetics. Part C, Seminars in medical genetics
This review article aims to guide the clinician in establishing a diagnosis in patients with agenesis of the corpus callosum (ACC), presenting antenatally or postnatally. ACC may be isolated, or occur in association with other neuroanatomical lesions and/or congenital anomalies, and has many different genetic causes. Neuropsychological outcome vari...
Oral-facial-digital syndrome type 1 (OFD1; MIM 311200) is characterized by multiple anomalies of the oral cavity, face and digits. We report a family with OFD1, where two female siblings and their mother shared the same mutation of the responsible gene (OFD1) c.1193_1196delAATC. Phenotypic variability was observed among them; the mother showed mini...
Progress in Brain Research
Neural models of autism spectrum disorders (ASDs) have moved, in recent years, from a lesion model to a focus on abnormal connectivity. In this chapter, we review this work and summarize findings from our recent research comparing autism and agenesis of the corpus callosum (AgCC). We discuss our findings in the context of the “fractionable triad” a...