RTTN基因的双等位基因突变与小头畸形、身材矮小以及多种脑畸形有关。
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
作者信息
Stouffs Katrien, Moortgat Stéphanie, Vanderhasselt Tim, Vandervore Laura, Dica Alice, Mathot Mikaël, Keymolen Kathelijn, Seneca Sara, Gheldof Alexander, De Meirleir Linda, Jansen Anna C
机构信息
Centre for Medical Genetics, UZ Brussel, Brussels, Belgium; Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium.
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.
出版信息
Eur J Med Genet. 2018 Dec;61(12):733-737. doi: 10.1016/j.ejmg.2018.06.001. Epub 2018 Jun 5.
Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN.
已报道RTTN基因的双等位基因突变与小头畸形、身材矮小、发育迟缓及皮质发育畸形有关。此前研究表明，RTTN突变可将异常的纤毛功能与人类大脑皮质的异常发育和组织联系起来。我们在此报告了来自两个无关家庭的三名个体，他们的RTTN基因存在新的突变。其表型包括小头畸形、身材矮小、巨脑回或多小脑回、枕部脑膨出、胼胝体发育不全和小脑蚓部发育不全。这些发现进一步证实了与RTTN致病变异相关的表型。
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