A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T.
Source : Birth Defects Res
2018 Apr 17
Pmid : 29356416
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.