講演情報
[P7-9]An 8.45 MB interstitial deletion of 10q26.13q26.3 in a boy with syndromic neurodevelopmental disorder
○高松 朋子1, 菅波 佑介1, 鈴木 慎二1, 森地 振一郎1, 石田 悠1, 呉 宗憲1, 小穴 信吾1, 柏木 保代1, 山中 岳1, 沼部 博直2 (1.東京医科大学 小児科・思春期科学分野, 2.東京都立北療育医療センター)
A boy born at 37 weeks and 4 days of gestation, weighting 2,370 g (-1.3 SD) was referred to our hospital at 5 months of age because of growth and developmental delay. His brain MRI showed no abnormalities and was appropriate for age. He had dysmorphic face such as prominent forehead, ocular hypertelorism, strabismus, high nasal bridge, prominent antihelix of ears, downturn corners of the mouth, thin upper lip and retrognathia. Kyoto Scale of Psychological Development scores showed an overall DQ of 58, a postural-motor DQ of 50, a cognitive-adaptive DQ of 63 and a verbal -social DQ of 50. His developmental progress was gradual, with holding his head up at 5 months and walking unaided at 2 years and 9 months. SNP microarray analysis revealed an 8.45 MB interstitial deletion of chromosome 10q. arr [GRCh37] 10q26.13q26.3(126953031x2,126987600_135434718x1,135512015x2). The Online Mendelian Inheritance in Man database includes seven morbid genes in this interval. Only the EBF3 gene is known to be autosomal dominant. This gene is the causative gene for Hypotonia, ataxia, and delayed development syndrome (HADDS). Twenty-six cases with HADDS caused by a microdeletion at 10q are known (ClinVar). and we report the characteristics of this case in comparison with these reported cases.