Table 1.
Clinical features of 20 patients with MLC.
Fig 1.
The head circumferences of patients.
y, year; m, month. (A-B) HC of 20 patients at first diagnosis; (C-D) HC of patients at the follow-up study; (E-F) HC growth curve of Pt7, Pt18 and Pt26.
Fig 2.
Genogram and cranial MRI of Pt17 and his mother.
(A) Genogram of Pt17. (B) MRI of Pt17 at 7mo. Abnormal signals in the white matter with subcortical cysts in the temporal lobes (Arrows). (C) MRI of Pt17 at 7.67yo. Normal signals in the white matter without subcortical cysts in the temporal lobes. (D) MRI of his mother at 33yo. Normal signals in the white matter without subcortical cysts in the temporal lobes.
Table 2.
The genotypes in 20 patients with MLC.
Fig 3.
Fragments in the dot box were exons of MLC1. Line at the left side represented signal rate. Signal rate between 0.7(red line) and 1.3(blue line) were normal. Signal rate less than 0.7 or greater than 1.3 were deletion or duplication, respectively. It indicated that homozygous deletion from exon4 to exon9 in MLC1 was detected in Pt13, and his parents were heterozygous deletion (dotted box).
Fig 4.
Splicing mutation of c.598-2A>C in MLC1 leads to skip of exon8.
(A) DNA sequence results of Pt2. (B-D) RT-PCR results of Pt2, his mother, his father, respectively. “*” indicated SNPs, arrows meant the mutation site. Exon7 were lined, exon8 and 9 were dotted.
Fig 5.
Results of haplotype analysis of Pt15 and her parents.
9 STR located on chromosome 22 were from 22q11.1 to 22q13.33 terminal regions. Alleles were labeled arbitrarily according to size.
Fig 6.
(A) Heterozygous variation of c.95C>T (p.A32V) in MLC1; (B) Heterozygous variation of c.274C>T (p.R92W) in GlialCAM.
Table 3.
Summaries of clinical features.
Table 4.
Head Circumference in the follow-up study.
Fig 7.
(A-C): cranial MRI at his 4.08yo. Diffuse and abnormal swollen white-matter signals and subcortical cysts in the temporal lobes (arrows); (D) CT at his 12.75yo indicated no changes in the white matter and subcortical cysts.
Fig 8.
Classification of motor ability.
(A)Patients numbers in each motor ability group; (B) Ratio of each levels of motor ability in groups of age.