AI Article Synopsis
- The RTTN gene helps make a protein that works in tiny structures in our cells called centrosomes, and mutations in this gene are linked to brain problems in some families.
- In one family, scientists found new mutations in the RTTN gene that were likely causing serious brain issues in their unborn babies, leading to three pregnancies being stopped.
- The study shows that problems with the RTTN gene can cause a type of brain condition called microcephaly and also points out specific brain structure abnormalities found during research.
Article Abstract
Background: The RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are associated with two phenotypes: polymicrogyria associated with seizures and primary microcephaly associated with primordial dwarfism.
Case: A targeted exome sequencing of morbid genes causing cerebral malformations identified novel RTTN compound heterozygous mutations in a family where three pregnancies were terminated because a severe fetal microcephaly was diagnosed. An autopsy performed on the second sib showed moderate growth restriction and a microcephaly with simplified gyral pattern. The histopathological study discovered a malformed cortical plate.
Conclusions: The present study confirms the involvement of RTTN gene mutations in microcephaly with simplified gyral pattern and describes the observed abnormal neuropathological findings.
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| http://dx.doi.org/10.1002/bdr2.1204 | DOI Listing |
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