Clinical Dysmorphology最新文献

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Multiple Mongolian spots in an individual with Kleefstra syndrome caused by a novel nonsense euchromatin histone methyltransferase 1 variant. 由一种新的无义常染色质组蛋白甲基转移酶1变异引起的Kleefstra综合征患者的多个蒙古斑

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000436

Xiang Pan, Jun Lu

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

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引用次数: 0

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum. 3MC综合征:先前报道和较轻患者的分子发现扩大了自然史和表型谱。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000443

Chloe Jade Ashton, Rahat Perveen, Glenda Beaman, Giangiorgio Crisponi, Ariadna González-Del Angel, Gilda Garza-Mayén, Miguel Angel Alcántara-Ortigoza, James O'Sullivan, Jill Clayton-Smith

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.

3MC综合征1-3型(MIM#257920、265050和248340)是一种罕见的常染色体隐性遗传病，由编码凝集素补体途径的基因的致病变异引起。3MC综合征患者具有独特的面部表型，包括远视、眉毛高度弓形和上睑下垂。相当数量的患者有双侧唇腭裂，他们经常表现出泌尿生殖系统和骨骼异常。3MC综合征的临床线索是存在特征性的尾侧附属物。MASP1, COLEC11和COLEC10基因的遗传变异已被确定为导致该综合征的原因，但迄今为止描述的患者相对较少。我们通过描述5例患者的临床和分子发现，巩固和扩展了目前对3MC综合征的表型特征和分子诊断的知识。这包括对两位兄弟的随访，他们的临床表型于1999年由Crisponi等人首次报道。我们的研究有助于3MC综合征的临床和分子谱的发展。

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引用次数: 0

Novel guanosine diphosphate-mannose pyrophosphorylase A variant in an individual with achalasia, alacrima, and intellectual disability. 新型鸟苷二磷酸-甘露糖焦磷酸化酶:贲门失弛缓症、肺活肿和智力残疾患者的一种变异。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000433

Gunes Sager, Ayberk Türkyilmaz, Yasemin Dilek Hanedar, Hediye Pinar Günbey, Yasemin Akin

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

引用次数: 0

Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link? 单侧小脑症与重新缺失20q13.33有关，是否有因果关系?

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000440

Shauna Quinn, Karl Kavanagh, Linda McArdle, David Betts, Sally-Ann Lynch

引用次数: 1

Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia. 两个患有碳水化合物磺基转移酶3相关骨骼发育不良症的兄弟姐妹的脐带内变异和神经系统表现。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 Epub Date: 2022-09-12 DOI: 10.1097/MCD.0000000000000432

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

引用次数: 0

A sib-pair with Al Kaissi syndrome caused by homozygosity for a novel CDK10 splice variant. 由一种新的CDK10剪接变体的纯合性引起的Al Kaissi综合征的兄弟姐妹对。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000439

Ajay Beriwal, Lakshita Chauhan, Amit Kumar, Aradhana Dwivedi

引用次数: 0

PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature. PLS3全基因缺失作为x连锁骨质疏松症的原因:临床报告并回顾已发表的PLS3文献

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2023-01-01 DOI: 10.1097/MCD.0000000000000442

Louise J Apperley, Shadi Albaba, Poonam Dharmaraj, Meena Balasubramanian

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

引用次数: 2

A familial case of NOG -related symphalangism spectrum disorder due to a novel NOG variant. 一种新的NOG变异引起的NOG相关的神经症谱系障碍的家族性病例。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000427

Giulia Parmeggiani, Francesca Gualandi, Marco Limarzi, Alessandra Ferlini, Davide Brotto, Alessandro Martini, Alberto Sensi

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

引用次数: 0

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination. PIGH中的纯合变体p（Arg163Trp）导致糖基磷脂酰肌醇生物合成缺陷，伴有癫痫性脑病和髓鞘形成延迟。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2022-10-01 Epub Date: 2022-04-19 DOI: 10.1097/MCD.0000000000000423

Michelle C do Rosario, Parneet Kaur, Katta Mohan Girisha, Stephanie Bielas, Anju Shukla

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.

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引用次数: 0

Hypertension and brachydactyly syndrome: a further case report. 高血压和短指综合征:再一例报告。

IF 0.7 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology

Pub Date : 2022-10-01 DOI: 10.1097/MCD.0000000000000424

Xiang Huang, Xiao-Lan Li, Fu-Yuan Liu, Hao Li, Heng Zhou, Xiao-Mei Li

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.

引用次数: 0

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