Premium
Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families
Author(s) -
Kliemann Susana E.,
Waetge Ricardo T.L.,
Suzuki Oscar T.,
PassosBueno M. Rita,
Rosemberg Sérgio
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20070
Subject(s) - encephalocele , disease , epilepsy , medicine , pathology , ophthalmology , anatomy , biology , neuroscience
Knobloch syndrome is an autosomal recessive disease characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele, mainly in the occipital region. Intra and interfamilial variability is present since the encephalocele is not found in all patients, and the degree of myopia is variable. Analysis of the associated malformations suggests alterations during early neuroectodermal morphogenesis. Only 24 cases have been reported. Recently, the gene responsible for the syndrome, mapped to 21q22.3, was identified. The present study reports on four new cases, revealing the existence of neuronal migratory defects associated with the disorder for the first time. © 2003 Wiley‐Liss, Inc.