RFT1-CDG：两名携带新型致病变异患者无癫痫和耳聋症状
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants.
作者信息
Quelhas D, Jaeken J, Fortuna A, Azevedo L, Bandeira A, Matthijs G, Martins E
机构信息
Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar do Porto, Porto, Portugal.
Unit for Multidisciplinary Research in Biomedicine, ICBAS, UP, Porto, Portugal.
出版信息
JIMD Rep. 2019;43:111-116. doi: 10.1007/8904_2018_112. Epub 2018 Jun 20.
Abstract
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G > A (p.G276D), c.73C > T (p.R25W), and c.208T > C (p.C70R).
摘要
本报告介绍了两名患有RFT1-CDG的新型患者。他们的表型特征为轻度精神运动障碍、行为问题、共济失调和轻度畸形。他们两人均未表现出癫痫症状，而迄今为止报道的所有RFT1-CDG患者（n = 14）均有癫痫症状。此外，我们的患者未观察到常与此病相关的耳聋症状。对RFT1的分子分析显示双等位基因错义变异，包括三个新的变异：c.827G>A（p.G276D）、c.73C>T（p.R25W）和c.208T>C（p.C70R）。
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