Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding [0.03%]
以心血管和肺功能障碍、骨骼发育不良及角膜混浊为特征的低密度脂蛋白受体相关蛋白1型综合征
Paul R Mark,Stephen A Murray,Tao Yang et al.
Paul R Mark et al.
We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital he...
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia [0.03%]
伴有间歇性肌阵挛和局灶性肌张力障碍的第二型阵发行小脑共济失调(EA2)
Emilie Neerup Nielsen,Birna Ásbjörnsdóttir,Lisbeth Birk Møller et al.
Emilie Neerup Nielsen et al.
Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. They are autosomal dominantly inherited early-onset diseases characterized by attacks of cerebellar dysfunction. EA1 is clinically characterized...
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy [0.03%]
YARS1错义丧失功能变异导致远端以 proximal-predominant motor neuropathy 为主的感觉运动轴索性神经病
Megan E Forrest,Alayne P Meyer,Stephanie M Laureano Figueroa et al.
Megan E Forrest et al.
Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (AARS1, GARS1, HARS1, WARS1, and YARS1) encoding ...
Kitiwan Rojnueangnit,Pimjai Anthanont,Thanitchet Khetkham et al.
Kitiwan Rojnueangnit et al.
Clinical utility of genetic testing has rapidly increased in the past decade to identify the definitive diagnosis, etiology, and specific management. The majority of patients receiving testing are children. There are several barriers for ge...
Lorlatinib and compound mutations in ALK+ large-cell neuroendocrine lung carcinoma: a case report [0.03%]
关于间变性淋巴瘤激酶重排的大细胞神经内分泌型小细胞肺癌一例报告
Christiane Wiedemann,Daniel Kazdal,Jelena Cvetkovic et al.
Christiane Wiedemann et al.
Large-cell neuroendocrine lung carcinoma (LCNEC) is a high-grade neoplasm with median survival of 1 year and limited therapeutic options. Here, we report the unusual case of a 47-yr-old female smoker with stage IV LCNEC featuring EML4-ALK v...
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia [0.03%]
ARGINASE1缺乏导致的遗传性痉挛性截瘫综合征病例报告及基因型-表型关联分析
Fernando Freua,Mariana Espíndola de Castro Almeida,Paulo Ribeiro Nóbrega et al.
Fernando Freua et al.
Introduction: Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizure...
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report [0.03%]
全外显子组测序(WES)检测遗传性单纯性少毛症致病新变异案例报告
Ayat Kadhi,Lamiaa Hamie,Christel Tamer et al.
Ayat Kadhi et al.
Background: Heredity Hypotrichosis Simplex (HHS) is a rare non-syndromic disease form of Hypotrichosis Simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal ...
Exon skipping in genes encoding lineage-defining myogenic transcription factors in rhabdomyosarcoma [0.03%]
横纹肌肉瘤中定义谱系的肌生成转录因子基因的外显子跳跃现象
Erin Butler,Lin Xu,Dinesh Rakheja et al.
Erin Butler et al.
Rhabdomyosarcoma (RMS) is a childhood sarcoma composed of myoblast-like cells, which suggests a defect in terminal skeletal muscle differentiation. To explore potential defects in the differentiation program, we searched for mRNA splicing v...
Detection of a GLIS3 fusion in an infant with AML refractory to chemotherapy [0.03%]
检测到GLIS3融合基因：化疗难治性婴儿AML患者的发现
Stephen M Smith,Alex Lee,Schuyler Tong et al.
Stephen M Smith et al.
Infants diagnosed with acute myeloid leukemia (AML) frequently harbor cytogenetically cryptic fusions involving KMT2A, NUP98 or GLIS2. Those with AML driven specifically by CBFA2T3::GLIS2 fusions have a dismal prognosis and are currently ri...
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity [0.03%]
与Jansena综合症相关的PHIP变异破坏复制叉稳定性和基因组完整性
Neysha Tirado-Class,Caitlin Hathaway,Wendy K Chung et al.
Neysha Tirado-Class et al.
Chung-Jansen syndrome (CJS) is a rare, autosomal dominant disorder characterized by developmental delay, intellectual disability/cognitive impairment, behavioral challenges, obesity, and dysmorphic features. CJS is associated with heterozyg...