Case Reports in Genetics最新文献

{"title":"Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review.","authors":"Manuela Quiroga-Carrillo,&nbsp;Cristian Correa-Arrieta,&nbsp;Fernando Ortiz-Corredor,&nbsp;Fernando Suarez-Obando","doi":"10.1155/2020/8843410","DOIUrl":"https://doi.org/10.1155/2020/8843410","url":null,"abstract":"<p><p>Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8843410"},"PeriodicalIF":0.0,"publicationDate":"2020-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8843410","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38545074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.","authors":"G N Cerbino,&nbsp;L Abou Assali,&nbsp;L S Varela,&nbsp;L Tomassi,&nbsp;A Batlle,&nbsp;V E Parera,&nbsp;M V Rossetti","doi":"10.1155/2020/8873219","DOIUrl":"https://doi.org/10.1155/2020/8873219","url":null,"abstract":"<p><p>Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates. Porphyria cutanea tarda (PCT) is the most common porphyria and is due to deficient activity of uroporphyrinogen decarboxylase (UROD). Acute intermittent porphyria (AIP) is the most common of the acute hepatic porphyrias, caused by decreased activity of hydroxymethylbilane synthase (HMBS). An Argentinean man with a family history of PCT who carried the <i>UROD</i> variant c.10_11insA suffered severe abdominal pain. Biochemical testing was consistent with AIP, and molecular analysis of <i>HMBS</i> revealed a <i>de novo</i> variant: c.344 + 2_ + 5delTAAG. This is one of the few cases of porphyria identified with both <i>UROD</i> and <i>HMBS</i> mutations and the first confirmed case of porphyria with dual enzyme deficiencies in Argentina.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8873219"},"PeriodicalIF":0.0,"publicationDate":"2020-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8873219","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38545075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.","authors":"Maheshi Wijayabandara,&nbsp;Champika Gamakaranage,&nbsp;Dineshani Hettiarachchi","doi":"10.1155/2020/8894518","DOIUrl":"https://doi.org/10.1155/2020/8894518","url":null,"abstract":"<p><strong>Background: </strong>Rhabdomyolysis can be either inherited or acquired such as in metabolic myopathies. Very-long-chain acyl-CoA dehydrogenase deficiency is a rare fatty acid oxidation disorder which presents with different phenotypes, and the mild adult form can present as intermittent rhabdomyolysis. Here, we present the first adult case of very-long-chain acyl-CoA dehydrogenase deficiency presenting as rhabdomyolysis in a Sri Lankan patient. <i>Case Presentation</i>. A 36-year-old Sri Lankan man who was born to consanguineous parents presented with severe generalized muscle pain, stiffness, and dark-coloured urine for three days following prolonged low-intensity activity. Since fourteen years of age, he has had multiple similar episodes, where one episode was complicated with acute kidney injury. His eldest brother also suffered from the similar episode. Examination revealed only generalized muscle tenderness without any weakness. His creatine phosphokinase level was above 50,000 IU/L, and he had myoglobinuria. Molecular genetic tests confirmed the diagnosis of very-long-chain acyl-CoA dehydrogenase deficiency. Following a successful recovery devoid of complications, he remained asymptomatic with lifestyle adjustments.</p><p><strong>Conclusion: </strong>Very-long-chain acyl-CoA dehydrogenase deficiency is a rare inherited cause of metabolic myopathy that gives rise to intermittent rhabdomyolysis in adults. Prompt diagnosis is essential to prevent complications and prevent its recurrence.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8894518"},"PeriodicalIF":0.0,"publicationDate":"2020-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8894518","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38533837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith-Wiedemann Syndrome: A Case Report and Review of the Literature.","authors":"Carolyn G Ahlers, Quoc-Huy Trinh, Martin Montenovo","doi":"10.1155/2020/8811296","DOIUrl":"10.1155/2020/8811296","url":null,"abstract":"<p><p>In this report, the case of a 24-year-old female with Beckwith-Wiedemann Syndrome (BWS) who was diagnosed with well-differentiated hepatocellular carcinoma (HCC) is described. While BWS has been associated with childhood embryonal tumors, most commonly Wilms tumors and hepatoblastomas, this is the first case report to describe HCC in an adult with BWS. Although HCC typically occurs in elderly adults or those with underlying liver disease, in this case, we show that HCC can occur in a young adult with BWS without any underlying liver disease.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8811296"},"PeriodicalIF":0.0,"publicationDate":"2020-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38510952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Mutation of <i>VPS</i>33<i>B</i> Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype.","authors":"Eleni Agakidou,&nbsp;Charalampos Agakidis,&nbsp;Marios Kambouris,&nbsp;Nicoleta Printza,&nbsp;Maria Farini,&nbsp;Elina Vourda,&nbsp;Spyridon Gerou,&nbsp;Kosmas Sarafidis","doi":"10.1155/2020/8872294","DOIUrl":"https://doi.org/10.1155/2020/8872294","url":null,"abstract":"<p><p>Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations of the <i>VPS</i>33<i>B</i> encoding the vacuolar protein sorting 33B (VPS33B), which is involved in the intracellular protein sorting and vesicular trafficking. We report a rare case of ARC syndrome without arthrogryposis caused by a novel mutation of <i>VPS</i>33<i>B</i>. A female patient of Greek origin presented on the 14^th day of life with renal tubular acidosis, Fanconi syndrome, nephrogenic diabetes insipidus, and cholestasis with normal gamma-glutamyl transpeptidase, without arthrogryposis and dysmorphic features. She was born to apparently healthy, nonconsanguineous parents. Additional features included dry and scaling skin, generalized hypotonia, hypoplastic corpus callosum, neurodevelopmental delay, failure to thrive, short stature, recurrent febrile episodes with and without infections, and gastrointestinal bleeding. DNA testing revealed that the patient was homozygous for the novel c.1098_1099delTG (p.Glu367Alafs<i>∗</i>17) mutation of exon 14 of <i>VPS</i>33<i>B</i> gene (NM_018668) on chromosome 15q26.1, leading to a nonsense frameshift variant of VPS33B with premature termination of translation. Her parents were heterozygous for the same <i>VPS</i>33<i>B</i> mutation. The prognosis was predictably poor in the context of the intractable polyuria necessitating long-term parenteral fluid administration via indwelling central catheter leading to catheter-related sepsis, to which she eventually succumbed at the age of 7 months. This is the first published <i>VPS</i>33<i>B</i> mutation in an ARC patient of Greek origin. The current case adds to the spectrum of ARC-associated <i>VPS</i>33<i>B</i> mutations and provides evidence supporting the existence of incomplete ARC phenotype. Increased awareness and early genetic testing for ARC are suggested in cases with isolated cholestasis and/or renal tubular dysfunction, even in the absence of arthrogryposis.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8872294"},"PeriodicalIF":0.0,"publicationDate":"2020-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8872294","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38466687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Adolescent with a Rare <i>De Novo</i> Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.","authors":"Leia A Peterman,&nbsp;Gail H Vance,&nbsp;Erin E Conboy,&nbsp;Katelynn Anderson,&nbsp;David D Weaver","doi":"10.1155/2020/8857628","DOIUrl":"https://doi.org/10.1155/2020/8857628","url":null,"abstract":"<p><p>We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb). This chromosomal abnormality is also described as distal trisomy 6p and distal monosomy 6q. The patient has a Chiari II malformation, hydrocephalus, agenesis of the corpus callosum, microcephaly, bilateral renal duplicated collecting system, scoliosis, and myelomeningocele associated with a neurogenic bladder and bladder reflux. Additional features have included seizures, feeding dysfunction, failure to thrive, sleep apnea, global developmental delay, intellectual disability, and absent speech. To our knowledge, our report is just the sixth case in the literature with concomitant distal 6p duplication and distal 6q deletion. Although a majority of chromosomal duplication-deletion cases have resulted from a parental pericentric inversion, the parents of our case have normal chromosomes. This is the first reported <i>de novo</i> case of distal 6p duplication and distal 6q deletion. Alternate explanations for the origin of the patient's chromosome abnormalities include parental gonadal mosaicism, nonallelic homologous recombination, or potentially intrachromosomal transposition of the telomeres of chromosome 6. Nonpaternity was considered but ruled out by whole exome sequencing analysis.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8857628"},"PeriodicalIF":0.0,"publicationDate":"2020-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8857628","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38483721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period.","authors":"Kiichi Takahashi,&nbsp;Hiroyuki Adachi,&nbsp;Manatomo Toyono,&nbsp;Masato Ito,&nbsp;Akie Kato,&nbsp;Atsuko Noguchi,&nbsp;Tsutomu Takahashi","doi":"10.1155/2020/1731720","DOIUrl":"https://doi.org/10.1155/2020/1731720","url":null,"abstract":"<p><p>Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the <i>KAT6B</i> gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydronephrosis and/or multiple renal cysts. More than half of patients with GPS have congenital heart defects, mostly atrial and/or ventricular septal defects, patent foramen ovale, and patent ductus arteriosus. We report a case of a Japanese neonate with a de novo heterozygous c.3769_3772delTCTA pathogenic variant in the <i>KAT6B</i> gene who presented with a cardiac intramural cavity of the ventricular septum at birth. The cavity unexpectedly disappeared at 1 month of age, but trabecular septal thinning and flash remained. The features of the cavity were not consistent with those of congenital ventricular diverticulum or aneurysm, and its identity and prognosis are still unclear. Because patients with GPS may exhibit various forms of cardiac malformation, careful cardiac examination and follow-up are required from birth in cases of suspected GPS.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"1731720"},"PeriodicalIF":0.0,"publicationDate":"2020-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/1731720","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38362135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature.","authors":"Cristina Aparecida Troques da Silveira Mitteldorf,&nbsp;Rafael Sarlo Vilela,&nbsp;Melissa Lissae Fugimori,&nbsp;Carla Daniele de Godoy,&nbsp;Renata de Almeida Coudry","doi":"10.1155/2020/8831006","DOIUrl":"https://doi.org/10.1155/2020/8831006","url":null,"abstract":"<p><p>Pilomatrixoma (<i>calcifying epithelioma of Malherbe</i>) is an uncommon benign skin appendageal tumor that differentiates toward hair matrix cells. It is misdiagnosed in up to 75% of cases by nondermatologists. Although the histopathological findings are well recognized and characteristic, diagnosis by fine-needle aspiration biopsy may be quite challenging. Several reports have emphasized the challenges in cytodiagnosis of pilomatrixoma, leading to a false-positive diagnosis. The lesions may show avidity for fludeoxyglucose on positron emission tomography/computed tomography scan, raising concern of a possible malignant neoplasm. CTNNB1 mutations have been reported in a high percentage of pilomatrixomas. Expression of <i>β</i>-catenin, the protein encoded by CTNNB1, is also frequently observed. To determine if routine cytological specimens can be successfully used to perform additional investigation and support or confirm the diagnosis in three cases of pilomatrixoma, we performed molecular analysis and immunohistochemistry to search for CTNNB1 mutation and <i>β</i>-catenin, respectively. <i>β</i>-Catenin positivity by immunohistochemistry was observed in basaloid cells in all three cases. Exon 3 mutations in <i>CTNNB1</i> were detected in all cases. In addition, we detected a fibroblast growth factor receptor 2 (FGFR2) mutation in one of the cases. We reviewed the literature and present the clinical and morphological characteristics that must be considered along with other findings to accurately achieve the correct diagnosis, in correlation with the results of the ancillary technique. In conclusion, routine cytological specimens can be successfully used to perform additional investigations and support cytodiagnosis in difficult cases.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"8831006"},"PeriodicalIF":0.0,"publicationDate":"2020-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/8831006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38362137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel <i>EMD</i> Mutation Identified by Whole-Exome Sequencing in Twins with Emery-Dreifuss Muscular Dystrophy.","authors":"Xiafei Dai,&nbsp;Rong Luo,&nbsp;Yang Chen,&nbsp;Chenqing Zheng,&nbsp;Yibin Tang,&nbsp;Hongmei Zhang,&nbsp;Ye Su,&nbsp;Tao He,&nbsp;Xiaoping Li","doi":"10.1155/2020/2071738","DOIUrl":"https://doi.org/10.1155/2020/2071738","url":null,"abstract":"<p><p>This case reports a novel hemizygous frameshift <i>EMD</i> mutation (c.487delA, p.Ser163fs) in twins of an Emery-Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"2071738"},"PeriodicalIF":0.0,"publicationDate":"2020-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/2071738","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38362136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.","authors":"Jamie H Choi,&nbsp;Rachel Li,&nbsp;Rachel Gannaway,&nbsp;Tahnee N Causey,&nbsp;Anna Harrison,&nbsp;Natario L Couser","doi":"10.1155/2020/7353452","DOIUrl":"https://doi.org/10.1155/2020/7353452","url":null,"abstract":"<p><p>Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene <i>SKI</i> gene, a known suppressor of TGF-<i>β</i> activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) <i>de novo</i> variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.</p>","PeriodicalId":30325,"journal":{"name":"Case Reports in Genetics","volume":"2020 ","pages":"7353452"},"PeriodicalIF":0.0,"publicationDate":"2020-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1155/2020/7353452","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25401477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}