Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

摘要: Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is an extremely rare autosomal recessive disorder distinctive clinical neuroimaging findings. To date, only 17 patients from 9 unrelated families BLC-PMG have been reported worldwide. Herein, we describe a series of 13 new derived 10 Egyptian families. Patients presented at early life the classic phenotype including severe microcephaly, failure to acquire developmental skills, growth distinguished patterns involving cortex, thalami, basal ganglia pons. Additional features not before included cerebellum (eight patients: 61.5%) imperforate anus undescended testis in single patient. Molecular studies OCLN gene (NM_001205254) identified six distinct candidate mutations. Interestingly, deletion mutation transmembrane domain exons 3 4 (c.51-?_730-?del, p.Lys18_Glu243) was found five (50%), suggesting founder our population. On other hand, novel truncating mutations (c.809delA (p.K270Rfs*62), c.858_861delTTAT (p.I286Mfs*45), c.1037+5G>C, c.1169C>G (p.S390*) c.1180delG (p.E394Sfs*91)) were detected, each one family. knowledge, this largest BLC-PMG. Cerebellum additional relevant finding series, thus expanding neuroradiological syndrome.