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Table 1 Clinical and Molecular Presentation of Proband and Comparison to Patients Reported in the Literature to have MCPH1 Deletions

From: CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

Features Proband, 1 Patient Garshasbi 2006 [11], 6 Patients Pfau 2013 [12], 1 Patient
Age 35 months 18-32 years 10 months
Gender Male 4 Males, 2 females Male
Race Hispanic Iranian Asian Indian
(Head circumference)
44 cm (<−2 SD) 49-50 cm (−3 SD), borderline to mild microcephaly 38 cm (<−5 SD)
Chromosome deletion 8p23.2p23.1 (hg19: 6,061,169-6,310,738) 8p22.2p23.2 (hg19: ~6239 kb-6300 kb) 8p23.1(hg19: 6164,466 × 2,6197,889 × 1-6295,040 × 1,6339,527 × 2)
Deletion description 250 kb (203 kb of upstream sequence and exons 1-8 of 14 (NM_024596) 150-200 kb that covered 25 kb of upstream sequence and exons 1-6 of 11 97-175 kb, promoter region and exons 1-11 of 14
Facial features Almond shaped eyes, epicanthal folds, bilateral esotropia, low hairline, large ears, smooth philtrum, and thin upper lip Not described Mild facial dysmorphism
Intellectual disability Physical and speech delay. At 48 months, <25% of his speech was intelligible to strangers, and he did not form sentences. Mild to moderate mental retardation Developmentally, patient had a social smile, stranger recognition, verbalized with coos and babbling, clapped when asked, and was able to progress from lying recumbent to rolling over, sitting and crawling without assistance. His progress had resulted in graduation from state developmental services.