Showing papers on "Neurocristopathy published in 2007"

Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat–Wilson syndrome

Abstract: Mowat-Wilson syndrome is a recently delineated autosomal dominant developmental anomaly, whereby heterozygous mutations in the ZFHX1B gene cause mental retardation, delayed motor development, epilepsy and a wide spectrum of clinically heterogeneous features, suggestive of neurocristopathies at the cephalic, cardiac and vagal levels. However, our understanding of the etiology of this condition at the cellular level remains vague. This study presents the Zfhx1b protein expression domain in mouse embryos and correlates this with a novel mouse model involving a conditional mutation in the Zfhx1b gene in neural crest precursor cells. These mutant mice display craniofacial and gastrointestinal malformations that show resemblance to those found in human patients with Mowat-Wilson syndrome. In addition to these clinically recognized alterations, we document developmental defects in the heart, melanoblasts and sympathetic and parasympathetic anlagen. The latter observations in our mouse model for Mowat-Wilson suggest a hitherto unknown role for Zfhx1b in the development of these particular neural crest derivatives, which is a set of observations that should be acknowledged in the clinical management of this genetic disorder.

Facial anomalies in a patient with cytochrome-oxidase deficiency and subsequent Kearns-Sayre syndrome with growth hormone deficiency.

Abstract: The authors report on a patient with mild cranio-facial abnormalities observed at birth and growth hormone deficiency, which later developed a typical Kearns-Sayre syndrome. Facial abnormalities are similar to those reported in the fetal alcohol syndrome (a typical neural crest syndrome). In the authors' opinion, they could be an abnormality of neural crest cell development or migration, due to expression of antenatal oxidative phosphorylation deficiency in neural crest cells or to an interference of defective oxidative phosphorylation with neural crest cells signal(s). On this ground, the Kearns-Sayre syndrome can be considered a neurocristopathy and the studies on this syndrome should take into account those diseases commonly associated with neurocristopathies (i.e. facial, endocrine, osseous, cardiovascular and of peripheral nerve system).

[Leigh syndrome with facial abnormalities: a neurocristopathy].

Abstract: A case of Leigh syndrome with respiratory chain defect and facial abnormalities is reported. Because most of the facial skeleton originates from the neural crests, which are strictly connected with the Central Nervous System development, the authors speculate that the facial abnormalities, observed in Leigh syndrome, are dependent on neural crest development disturbances (dysneurulation) and related to neurological features and that Leigh syndrome is a neurocristopathy. In case of facial abnormalities in infancy Leigh syndrome with respiratory chain defect should be investigated.