An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation [0.03%]
针对莫比乌斯综合征（包括非典型病例）的外显子组测序研究，发现了一例CFEOM3A和TUBB3突变患者
Ronak M Patel,David Liu,Claudia Gonzaga-Jauregui et al.
Ronak M Patel et al.
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of th...
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype [0.03%]
外显子组测序鉴定出一个具有复杂结缔组织表型的患者的FBN1和TRPS1基因新生致病变异
Diane B Zastrow,Patricia A Zornio,Annika Dries et al.
Diane B Zastrow et al.
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identif...
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide [0.03%]
ZMPSTE24缺陷所致早衰样综合征患者使用雷帕霉素和二甲亚砜治疗可受益
Baris Akinci,Shireesha Sankella,Christopher Gilpin et al.
Baris Akinci et al.
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to ...
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11 [0.03%]
NDUFB11基因截短变异相关的表型：类组织细胞型心肌病和线状皮肤畸形伴小眼球综合征
Gillian Rea,Tessa Homfray,Jan Till et al.
Gillian Rea et al.
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear ...
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation [0.03%]
OPA3新发突变所致视神经萎缩、白内障、脂代谢异常和周围神经病
Stephanie C Bourne,Katelin N Townsend,Casper Shyr et al.
Stephanie C Bourne et al.
We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be...
Vijaykumar R Holla,Yasir Y Elamin,Ann Marie Bailey et al.
Vijaykumar R Holla et al.
The anaplastic lymphoma kinase (ALK) gene plays an important physiologic role in the development of the brain and can be oncogenically altered in several malignancies, including non-small-cell lung cancer (NSCLC) and anaplastic large cell l...
Heidi L Rehm
Heidi L Rehm
A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1 [0.03%]
SLC12A2基因编码的Na-K-2Cl同向转运体NKCC1截短突变导致多系统功能障碍患者发病
Eric Delpire,Lynne Wolfe,Bianca Flores et al.
Eric Delpire et al.
This study describes a 13-yr-old girl with orthostatic intolerance, respiratory weakness, multiple endocrine abnormalities, pancreatic insufficiency, and multiorgan failure involving the gut and bladder. Exome sequencing revealed a de novo,...
Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response [0.03%]
通过对“特异疗效反应者”肺癌腺癌患者多重连续获取肿瘤转移位点的基因组分析揭示了广泛的基因组异质性及驱动治疗效果的新发体细胞突变
Romi Biswas,Shaojian Gao,Constance M Cultraro et al.
Romi Biswas et al.
We used next-generation sequencing to identify somatic alterations in multiple metastatic sites from an "exceptional responder" lung adenocarcinoma patient during his 7-yr course of ERBB2-directed therapies. The degree of heterogeneity was ...
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome [0.03%]
全外显子组测序揭示Liddle综合征早期发病表型由上皮钠通道β亚基基因的R566X突变遗传引起
Linda M Polfus,Eric Boerwinkle,Richard A Gibbs et al.
Linda M Polfus et al.
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hyper...