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推送日期：2017.3.11 OMIM编号：617391 疾病：婴儿早期癫痫性脑病54型，EIEE54 表型：delayed psychomotor development, early-onset refractory（难治的） seizures，severe intellectual disability 基因：HNRNPU 背后的小故事：  In a 33-year-old man (patient T162) with EIEE54, Carvill et al. (2013, PMID:23708187) identified a heterozygous nonsense mutation in the HNRNPU gene (Y805X; 602869.0001). The mutation was not present in the mother; DNA from the father was unavailable. In a 3.5-year-old boy (patient 1464.524) with EIEE54, Hamdan et al. (2014,PMID: 25356899) identified a de novo heterozygous nonsense mutation in the HNRNPU gene. In a girl (patient 2012D06376) with EIEE54, de Kovel et al. (2016,PMID: 27652284) identified a de novo frameshift mutation in the HNRNPU gene. OMIM编号：617392 疾病：外胚层发育不良13型 表型：severe oligodontia（少牙） accompanied by anomalies of hair and skin 基因：KREMEN1 背后的小故事：  In 4 consanguineous（近亲） Palestinian families with ectodermal dysplasia（外胚层发育不良） of the hair/tooth type, who were negative for mutation in the most frequently mutated oligodontia-associated genes, Issa et al. (2016) performed whole-exome and Sanger sequencing and identified homozygosity for a missense mutation in the KREMEN1 gene (F209S; 609898.0001) that segregated fully with disease in all 4 families。 推送日期：2017.3.10 OMIM编号：617389 疾病：婴儿早期癫痫性脑病53型，EIEE53 表型：hypotonia（肌张力低下） and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia（痉挛性四肢麻痹）. Some patients may die in childhood 基因：SYNJ1 背后的小故事： In 6 children from 3 unrelated families with EIEE53, Hardies et al. (2016，PMID:27435091) identified homozygous or compound heterozygous mutations in the SYNJ1 gene (604297.0003-604297.0006). The mutations, which were found by whole-genome or whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the families. 推送日期：2017.3.9 OMIM编号：617388 疾病：Autoinflammation with arthritis and dyskeratosis(角化不良) 表型：recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level 基因：NLRP1 背后的小故事：  In a consanguineous Algerian family segregating autosomal recessive autoinflammation with arthritis and dyskeratosis, negative for mutation in 3 known autoinflammatory genes, Grandemange et al. (2016，pmid: 27965258) performed exome sequencing and identified homozygosity for a missense mutation in the NLRP1 gene (R726W; 606636.0005). Sanger sequencing of NLRP1 in a similarly affected Dutch girl revealed heterozygosity for a de novo missense mutation (P1214R; 606636.0006); the presence of pathogenic variants in other known or candidate autoinflammatory genes was excluded by next-generation sequencing, as well as by Sanger sequencing of the AIRE (607358) and CASP10 (601762) genes. 本系列文章赞赏将捐给OMIM网站，前3期共获得热心读者368元赞赏！ |
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