Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability [0.03%]
FBN2常见变异体在漏斗胸中凸显出潜在的表型差异性
Xicheng Deng,Yu Zheng,Jinghua Wang et al.
Xicheng Deng et al.
Background: During genetic screening for radioulnar synostosis (RUS), we identified FBN2 variants in individuals who also exhibited pectus excavatum (PE). This study aimed to investigate the association between FBN2 varia...
Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy [0.03%]
复合杂合EGFR突变导致罕见皮肤自炎症和巴特尔样失盐性肾小管病患者生存期最长一例报告
Leila Youssefian,Sajjad Biglari,Fatemeh Vahidnezhad et al.
Leila Youssefian et al.
Background: Bartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism. ...
Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot [0.03%]
MEF2C启动子突变体的功能表征及其在法洛四联症中的病理意义
Shao-Jie Wang,Zi-Fei Zheng,Huan-Xin Chen et al.
Shao-Jie Wang et al.
Background: Tetralogy of Fallot (TOF) is the most common cyanotic form of congenital heart disease (CHD). The myocyte enhancer factor 2C (MEF2C) transcription factor is a crucial regulator of cardiac development, and vari...
Identification of biallelic loss-of-function PREP variants in three individuals with syndromic intellectual disability [0.03%]
鉴定出三个伴有综合征性智力障碍个体中的PREP功能丧失型变异
Erik Hertstein,Miriam Bertrand,Johannes Kopp et al.
Erik Hertstein et al.
Background: Neurodevelopmental disorders are one of the most prevalent reasons for genetic testing in childhood. Despite the identification of over 1950 associated genes, many proposed candidate genes lack convincing gene...
Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry [0.03%]
IRD-PT注册表中具有双重遗传模式的视网膜疾病基因的新见解
Mariana Ferreira Francisco,Beatriz Gaspar,Rufino Silva et al.
Mariana Ferreira Francisco et al.
Background: Inherited retinal diseases (IRDs) typically follow a single inheritance pattern, but some genes cause disease through both autosomal recessive (AR) and autosomal dominant (AD) patterns, challenging genetic cou...
Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution [0.03%]
TP53变异的解读：体细胞嵌合体和ERCC6L2驱动的克隆演化
Amalie Noergaard Andersson,Anna Byrjalsen,Ida Elisabeth Viller Tuxen et al.
Amalie Noergaard Andersson et al.
We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24-year-old female with early-onset breast cancer and a somatic mosaic TP53 PV with a ...
Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome [0.03%]
Prader-Willi综合征的出生率和流行率的估计值在不同时期与不同国家之间的比较综述
Joyce Whittington,Anthony J Holland
Joyce Whittington
Epidemiological data such as birth incidence or population prevalence for rare conditions is difficult to obtain because of the large sample size required in order to obtain a valid estimate (ie based on a reasonable number of cases) and th...
Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing [0.03%]
通过长读纳米孔测序识别出一种新的EPCAM-MSH2间插缺失导致的与EPCAM相关的林奇综合征
Luiza Steffens Reinhardt,Alexander Coster,Sean M Burnard et al.
Luiza Steffens Reinhardt et al.
Epithelial cell adhesion molecule (EPCAM)-associated Lynch syndrome arises from deletions at the 3'-end of EPCAM that disrupt transcriptional termination, generate read-through transcripts and cause epigenetic silencing of MSH2 in EPCAM-exp...
PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives [0.03%]
PRS-BC313在女性患者及其健康亲属中的整合以实现乳腺癌的个体化预防
Rosanna H E Krakowsky,Stephan Drukewitz,Alexandra Händel et al.
Rosanna H E Krakowsky et al.
Precise breast cancer risk assessment (BCR) is essential for personalised prevention in women with a family history of hereditary breast and ovarian cancer (HBOC). The CanRisk model integrates monogenic variants with reproductive, lifestyle...
Location matters: topography of germline CEBPA variants predicts variable outcomes in familial acute myeloid leukaemia-a rare disease perspective [0.03%]
CEBPA变异的地形预测家族急性髓系白血病的不同结局——一种罕见疾病的视角
Jinjun Yang,Xiaoqian Duan,Min Zhu et al.
Jinjun Yang et al.
Background: Familial acute myeloid leukaemia (AML) with germline CEBPA (CCAAT/enhancer-binding protein alpha) variants is a distinct hereditary entity, yet clinically meaningful genotype-phenotype correlations remain inco...