Clinical Dysmorphology最新文献

{"title":"Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant.","authors":"Xiang Pan,&nbsp;Jun Lu","doi":"10.1097/MCD.0000000000000436","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000436","url":null,"abstract":"Introduction Kleefstra syndrome (KS) (OMIM #610253) is caused by a heterozygous microdeletion of chromosome 9q34.3 region or a pathogenic variation in the euchromatin histone methyltransferase 1 (EHMT1) gene (OMIM #607001). The EHMT1 gene located at chromosome 9q34.3 region, which contains a total of 28 exons, and the initiation of ATG occurs in exon 2 (Kleefstra et al., 2006). Kleefstra et al. (2009) reported 16 patients with 9q subtelomeric deletion syndrome and six patients with an intragenic EHMT1 mutation. All patients presented with the core phenotype of the deletion syndrome, and there were no phenotype-genotype correlations between size of the deletions or type of mutations and severity of clinical features, so they concluded that the haploinsufficiency of EHMT1 gene was the basis for the phenotypic features of the deletion syndrome. There are more than 100 cases of KS reported so far, of which about 75% are caused by a heterozygous microdeletion in the 9q34.3 region containing the EHMT1 gene, and 25% are caused by loss-of-function, intragenic EHMT1 variants (Atik et al., 2015). We report an individual with KS1 and multiple Mongolian spots (also known as congenital dermal melanocytosis) caused by a novel pathogenic nonsense variant NM_024757:exon 9:c.1468C >T(p.R490*) in the EHMT1 gene. Case report An 11-month-old girl born at 37 weeks of gestational age to a 27-year-old G1P0 → 1 mother was referred to our clinics because of motor developmental delay (DD). Pregnancy and family history were noncontributory. She achieved head control by 5 months, and could sit up independently by 10 months but was not able to crawl or say simple words such as ‘Mom’ or ‘Dad’. Growth parameters were as follows: weight 7.0 kg (<3rd centile), length 67.5 cm (<3rd centile), head circumference 41.0 cm (<3rd centile). Indifferent reaction, not easy to be amused, unable to actively look at others, no response to name. The back, buttocks, and the outside of the right thigh were diffusely distributed with bluish-brown Mongolian spots (Fig. 1). The head circumference was small (Microcephaly) and the front and back diameter of the head was short. Special facial features: highly arched","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"29-31"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/3d/27/cd-32-29.PMC9741983.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.","authors":"Chloe Jade Ashton,&nbsp;Rahat Perveen,&nbsp;Glenda Beaman,&nbsp;Giangiorgio Crisponi,&nbsp;Ariadna González-Del Angel,&nbsp;Gilda Garza-Mayén,&nbsp;Miguel Angel Alcántara-Ortigoza,&nbsp;James O'Sullivan,&nbsp;Jill Clayton-Smith","doi":"10.1097/MCD.0000000000000443","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000443","url":null,"abstract":"<p><p>The 3MC syndromes types 1-3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit genitourinary and skeletal anomalies. A clinical clue to 3MC syndrome is the presence of a characteristic caudal appendage. Genetic variants in MASP1, COLEC11 and COLEC10 genes have been identified as the causation of this syndrome, yet relatively few patients have been described so far. We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the clinical and molecular findings in five patients. This includes follow-up of two brothers whose clinical phenotypes were first reported by Crisponi et al in 1999. Our study contributes to the evolving clinical and molecular spectrum of 3MC syndrome.</p>","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"7-13"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10229510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability.","authors":"Gunes Sager,&nbsp;Ayberk Türkyilmaz,&nbsp;Yasemin Dilek Hanedar,&nbsp;Hediye Pinar Günbey,&nbsp;Yasemin Akin","doi":"10.1097/MCD.0000000000000433","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000433","url":null,"abstract":"Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon and Departments of Pediatric Gastroenetrology, Radiology and Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey Correspondence to Gunes Sager, MD, Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Semsi Denizer Avenue, Cevizli, 34890, Kartal, Istanbul, Turkey Tel: +905055983104; e-mail: sgunessenturk@gmail.com","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"18-20"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10723728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?","authors":"Shauna Quinn,&nbsp;Karl Kavanagh,&nbsp;Linda McArdle,&nbsp;David Betts,&nbsp;Sally-Ann Lynch","doi":"10.1097/MCD.0000000000000440","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000440","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"39-42"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.","authors":"Jehú Rivera-Vargas, Andrea Superti-Furga, Luisa Bonafé, Christian Peña-Padilla, Rocío Carolina Cortés-Pastrana, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Jorge Román Corona-Rivera","doi":"10.1097/MCD.0000000000000432","DOIUrl":"10.1097/MCD.0000000000000432","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"14-17"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant.","authors":"Ajay Beriwal,&nbsp;Lakshita Chauhan,&nbsp;Amit Kumar,&nbsp;Aradhana Dwivedi","doi":"10.1097/MCD.0000000000000439","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000439","url":null,"abstract":"","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"32-35"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10723729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature.","authors":"Louise J Apperley,&nbsp;Shadi Albaba,&nbsp;Poonam Dharmaraj,&nbsp;Meena Balasubramanian","doi":"10.1097/MCD.0000000000000442","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000442","url":null,"abstract":"Department of Paediatric Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, Sheffield Diagnostic Genetics Service, Sheffield Children’s NHS Foundation Trust, Department of Oncology and Metabolism, University of Sheffield, Sheffield Clinical Genetics Service and Highly Specialised Severe, Complex and Atypical Osteogenesis Imperfecta Service, Sheffield Children’s NHS Foundation Trust, Sheffield, UK Correspondence to Meena Balasubramanian, MD, Department of Oncology and Metabolism, University of Sheffield, Sheffield S10 2RX, UK Tel: +44 114 2717025; fax: +44 114 2737467; e-mail: m.balasubramanian@sheffield.ac.uk; meena.balasubramanian@nhs.net","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"32 1","pages":"43-47"},"PeriodicalIF":0.7,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10723730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant.","authors":"Giulia Parmeggiani,&nbsp;Francesca Gualandi,&nbsp;Marco Limarzi,&nbsp;Alessandra Ferlini,&nbsp;Davide Brotto,&nbsp;Alessandro Martini,&nbsp;Alberto Sensi","doi":"10.1097/MCD.0000000000000427","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000427","url":null,"abstract":"AUSL della Romagna, Medical Genetics Unit, Cesena, Azienda OspedalieroUniversitaria di Ferrara, Medical Genetics Unit, Ferrara, AUSL della Romagna ENT Unit, Cesena, Neurosciences Department, Università di Padova, Otorhinolaryngology Unit, Padova, Italy Correspondence to Giulia Parmeggiani, MD, AUSL della Romagna Medical Genetics Unit, 47522 Cesena, Italy Tel: +39 0547 394841; fax: +39 0547 352008; e-mail: giulia.parmeggiani@auslromagna.it","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"185-190"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.","authors":"Michelle C do Rosario,&nbsp;Parneet Kaur,&nbsp;Katta Mohan Girisha,&nbsp;Stephanie Bielas,&nbsp;Anju Shukla","doi":"10.1097/MCD.0000000000000423","DOIUrl":"10.1097/MCD.0000000000000423","url":null,"abstract":"Introduction PIGH encoded as phosphatidylinositol N-acetylglucosaminyltransferase subunit H helps catalyze the first step of glycosylphosphatidylinositol (GPI) biosynthesis by transferring N-acetylglucosamine from UDP-N-acetylglucosamine to an inositol phospholipid acceptor. Pathogenic variants in PIGH have been reported to cause GPI biosynthesis defect 17 (MIM# 618010). To date, a total of seven individuals from five unrelated families with GPI biosynthesis defect 17 (MIM# 618010) have been reported (Pagnamenta and Murakami, 2018; Nguyen et al., 2018; Tremblay-Laganière et al., 2021). In this report, we describe an additional proband with early-onset recurrent seizures, postictal regression of attained milestones, hypotonia and delayed myelination on neuroimaging of brain at 1 year of age, and an underlying biallelic variant in PIGH. Additionally, we review and compare the phenotypic and genotypic findings of all individuals with GPI biosynthesis defect 17.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"196-200"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474726/pdf/nihms-1794280.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10280210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertension and brachydactyly syndrome: a further case report.","authors":"Xiang Huang,&nbsp;Xiao-Lan Li,&nbsp;Fu-Yuan Liu,&nbsp;Hao Li,&nbsp;Heng Zhou,&nbsp;Xiao-Mei Li","doi":"10.1097/MCD.0000000000000424","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000424","url":null,"abstract":"Introduction Hypertension and brachydactyly syndrome (HTNB) is characterized by brachydactyly type E (BDE) with autosomal dominant inherited, age-dependent and sodium-insensitive hypertension from an early age. Based on the present research findings, the PDE3A gene is responsible for HTNB, which is located at 12p12.2-p11.2 and is abundantly expressed in platelet, heart and vascular smooth muscle. PDE3A encodes phosphodiesterase 3A which hydrolyzes cyclic GMP (cGMP) and cyclic AMP (cAMP). Laboratory experiments suggested that PDE3A variants in HTNB-affected individuals are gain-of-function variants as they increase protein kinase A (PKA)mediated phosphorylation of phosphodiesterase 3A which leads to hyperactivation of phosphodiesterase 3A (Ercu et al., 2020). In this study, we identified a missense variant (c.1340C>T) in PDE3A of a Chinese family with HTNB and emphasized clinical features and diagnostic evaluation of this rare disease.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":"31 4","pages":"201-205"},"PeriodicalIF":0.7,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10227425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}