Optical Genome Mapping and Long-Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With Duchenne Muscular Dystrophy [0.03%]
光学基因组映射和长读测序在Duchenne肌营养不良患者中鉴定出一个新的dystrophin基因倒位突变
Ryan Gallagher,Alexya Aguilera,Sara Acosta Villarreal et al.
Ryan Gallagher et al.
Genetic testing using targeted panels or comprehensive genome sequencing is the current standard for diagnosing Duchenne muscular dystrophy (DMD), identifying pathogenic variants in up to 98% of cases. We report a 5-year-old male presenting...
A More Precise Description of the AKT2-Related Hypoinsulinemic Hypoglycemia and Overgrowth Syndrome Phenotype, Formerly Described Under the MORFAN Acronym [0.03%]
对AKT2相关性胰岛素缺乏性低血糖和过度生长综合征表型的更精确描述，该综合征此前曾以MORFAN为缩写称谓。
Marek Turnovec,Adéla Bubeníková,Ondřej Rýdlo et al.
Marek Turnovec et al.
The AKT2-related hypoinsulinemic hypoglycemia and overgrowth syndrome was initially described over 30 years ago as MORFAN syndrome which was an acronym for Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis ...
Expanding the Phenotype of TUFM-Related Combined Oxidative Phosphorylation Deficiency 4 [0.03%]
扩展TUFM相关联合型氧化磷酸化缺陷综合征4表型
Noémie Villeneuve-Cloutier,Jodi Warman-Chardon,Danielle K Bourque
Noémie Villeneuve-Cloutier
Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear-encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, ...
Transient Neonatal Zinc Deficiency due to Maternal Variants in SLC30A2: An Emerging and Atypical Candidate Gene for Maternal Carrier Screening [0.03%]
SLC30A2基因变异导致的新生儿暂时性锌缺乏症：一种新兴的和非典型的母系携带者筛查候选基因病症
Christopher Carter,Danielle Luz,Emma E Smith et al.
Christopher Carter et al.
Transient neonatal zinc deficiency (TNZD) is a genetic condition that presents with dermatitis, alopecia, diarrhea, and growth faltering in breast milk-fed infants of females with a heterozygous pathogenic variant in SLC30A2, the primary zi...
A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review [0.03%]
通过基因组数据重新分析识别出一种新的SPOUT1相关神经发育障碍患者：新型表型特征和文献综述
Tomás Valle,Alejandra Damián,Marta Torres et al.
Tomás Valle et al.
We report a 5-year-old Spanish male with a homozygous SPOUT1 variant (NM_016390.4:c.1058C>T; p.Thr353Met), identified by re-analysis of whole-genome sequencing. His phenotype includes severe developmental delay, microcephaly, epilepsy evolv...
Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia [0.03%]
RASopathy的复杂遗传结构：携带PTPN11始源性变异和RIT1嵌合体致病变异的Noonan综合征患者的成人急性髓系白血病基因型-表型研究
Francesco Prevedello,Dario Seif Ali,Chiara Piccolo et al.
Francesco Prevedello et al.
Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases ha...
A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk [0.03%]
通过分子检测诊断的具有非典型临床表现的脑颅皮肤脂肪瘤病（ECCL）病例：FGFR1与ECCL肿瘤风险
Abhinav Thakral,Carmen Maria Avram Santoli,Olajire Idowu et al.
Abhinav Thakral et al.
Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous condition caused by postzygotic mosaic activating variants in genes including FGFR1, NRAS, or KRAS. It primarily affects the skin, eyes, and central nervous system. Diagnosis i...
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature [0.03%]
线粒体DNA m.10010T>C突变病一例及文献复习（低钙血症、低镁血症、继发性甲旁减）
Jacob Mohr,Anja Lisbeth Frederiksen,Morten Duno et al.
Jacob Mohr et al.
Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pa...
Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male [0.03%]
一例以神经系统表现为主要临床表现的46岁Griscelli综合征Ⅱ型患者
Dzhoy Papingi,Michael Kutsche,Helena Lichtenfeld et al.
Dzhoy Papingi et al.
Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormali...
Remote Language Assessment in School-Age Children With Phelan-McDermid Syndrome and Genotype-Phenotype Correlation [0.03%]
学龄期Phelan McDermid综合征儿童的远程语言评估及基因表型相关性研究
Sarah Quadri-Valverde,Jessica Klusek,Linda D Ward et al.
Sarah Quadri-Valverde et al.
People with Phelan-McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and co...