Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.
Open Access
- 1 December 1998
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 35 (12), 1031-1033
- https://doi.org/10.1136/jmg.35.12.1031
Abstract
Agenesis of the corpus callosum (ACC) is a relatively common brain abnormality resulting from developmental defects either limited to the structures leading to the proper formation of the corpus callosum or involving the embryo forebrain more generally. ACC is genetically heterogeneous with autosomal dominant, autosomal recessive, and X linked inheritance and has also been reported in subjects with aneuploidies involving several chromosomes. Among them, distal 6q deletions have been consistently reported in association with ACC, suggesting that there is a gene in the deleted region whose haploinsufficiency impairs normal corpus callosum development. We have studied a child with ACC with Probst bundles and a deletion at 6q25 of about 8 cM, from D6S1496 to D6S437. Probst bundles are the axons that should have formed the corpus callosum but, unable to cross the midline owing to absence of the massa commissuralis, they run longitudinally along the medial walls of the lateral ventricles from the frontal to the occipital lobes. Thus, their presence suggests that a gene located in the 6q deleted region is specifically involved in the formation of the massa commissuralis and that its haploinsufficiency leads to primary ACC.Keywords
This publication has 17 references indexed in Scilit:
- Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivationAmerican Journal of Medical Genetics, 1997
- L1-associated diseases: clinical geneticists divide, molecular geneticists uniteHuman Molecular Genetics, 1997
- Mutations in the human Sonic Hedgehog gene cause holoprosencephalyNature Genetics, 1996
- Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23Human Molecular Genetics, 1996
- Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeatsNature, 1993
- Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α‐L‐fucosidase 2American Journal of Medical Genetics, 1991
- Deletion of terminal portion of 6q: Report of a case with unusual malformationsAmerican Journal of Medical Genetics, 1989
- Frequency of Agenesis of the Corpus Callosum in the Developmentally Disabled Population as Determined by Computerized TomographyPediatric Neurosurgery, 1985
- Ring chromosome 6: Variability in phenotypic expressionAmerican Journal of Medical Genetics, 1983
- A defect of the anterior part of the corpus callosum simulating tumourNeuroradiology, 1974