Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings [0.03%]
TTBK1双等位基因突变导致一种严重的综合征性神经发育障碍：两名兄弟姐妹的临床和遗传研究发现
Zehra Manav Yigit,Salih Burak Erarslan,Ayse Tosun et al.
Zehra Manav Yigit et al.
Background: Tau-tubulin kinase 1 (TTBK1) is a neuron-enriched kinase implicated in τ phosphorylation and neurodegeneration. Human phenotypes associated with constitutional TTBK1 variants remain undefined. ...
Dibyendu Dutta,Megan Keeney,Nicole Matthews et al.
Dibyendu Dutta et al.
Background: Chromosome 19 is the most gene-dense chromosome in the human genome, with a high frequency of segmental duplications that predispose it to genomic rearrangements. While deletions of chromosome 19 have been ass...
Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies [0.03%]
DES变异(p.Glu353dup)导致肌原纤维肌病：临床、计算和功能研究
Sheila Lucia Castañeda,Guadalupe Amin,Maria Ines Freiberger et al.
Sheila Lucia Castañeda et al.
Background: Desmin (DES) is a major intermediate filament protein involved in the structural integrity and function of striated muscles. Pathogenic mutations in DES are predominantly missense variants, causing isolated ca...
Targeting autophagy in Duchenne muscular dystrophy: mechanistic insights and emerging therapeutic strategies [0.03%]
杜氏肌营养不良症中靶向自噬：机制见解和新兴的治疗策略
Lakshmi Krishna,Ananyashree Srivathsa,Rhea Anand et al.
Lakshmi Krishna et al.
Duchenne muscular dystrophy (DMD) is a severe X-linked myopathy characterised by progressive skeletal and cardiac muscle degeneration, loss of ambulation, respiratory failure and premature mortality. Although corticosteroids and gene therap...
Refining the phenotypic spectrum of PNKP-related microcephaly: a study of 27 new patients [0.03%]
PNKP相关小头畸形表型谱的拓展及27例新患者的临床研究
Ghada M H Abdel-Salam,Mohamed S Abdel-Hamid,Sherif F Abdel-Ghafar et al.
Ghada M H Abdel-Salam et al.
Background: Biallelic pathogenic variants in PNKP are associated with microcephaly and early-onset seizures (MCSZ), ataxia with oculomotor apraxia type 4 and Charcot-Marie-Tooth disease type 2B2. ...
Catatonia and regression in an autism spectrum disorder patient harbouring a BRSK2 frameshift mutation [0.03%]
携带BRSK2移码突变的自闭症谱系障碍患者的类木僵和退行性行为
Andrea Lautato Sertié,Raphaella Josino,Vitória Rezende Goll et al.
Andrea Lautato Sertié et al.
Deleterious variants in the BRSK2 gene, which encodes a serine/threonine kinase crucial for neuronal polarisation and brain development, have recently been linked to the pathogenesis of autism spectrum disorder (ASD). However, comprehensive...
Obstetric history of women with m.3243A>G: an observational cohort study [0.03%]
线粒体DNA 3243A>G突变型女性的产科史：一项队列观察研究
Petra Kuikka,Hilkka Nikkinen,Kari Majamaa et al.
Petra Kuikka et al.
Background: Mitochondrial diseases are genetic disorders arising from pathogenic variants in nuclear or mitochondrial DNA (mtDNA) characterised by respiratory chain dysfunction. Clinical manifestations are diverse, and tr...
Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion [0.03%]
合子型研究及利用附近标记变异确认了一个内基因CYP11B1倒位的谱系起源
Alistair T Pagnamenta,Timothy S Hall,Caroline F Wright et al.
Alistair T Pagnamenta et al.
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance [0.03%]
BRCA2 c.8351G>A p.(Arg2784Gln)致病性的证据及其降低外显率致病变异分类的挑战
Setareh Moghadasi,Maria Zanti,Fonnet Bleeker et al.
Setareh Moghadasi et al.
Background: The BRCA2 c.8351G>A p.(Arg2784Gln) variant has long been classified as a variant of uncertain significance (VUS) due to conflicting evidence used in variant classification. This study aims to clarify its patho...
Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR [0.03%]
对英国“十万基因组计划”中的家族性渗出性玻璃体视网膜病变（FEVR）病例进行分析，提高诊断率，并提示CTNND1杂合突变与FREVR相关
Dong Sun,Robert H Henderson,Emma Clement et al.
Dong Sun et al.
Background: Familial exudative vitreoretinopathy (FEVR) is an inherited eye disease characterised by the incomplete development of the retinal vasculature. Over 10 genes have been associated with FEVR, but there are still...