Clinical Dysmorphology最新文献

Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence. 双等位基因变异的agn与复发性妊娠丢失在一个家庭与胎儿运动障碍变形序列。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-10 DOI: 10.1097/MCD.0000000000000517

Mangalore S Shravya, Ankur Chaurasia, Katta M Girisha, Shalini S Nayak

{"title":"Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.","authors":"Mangalore S Shravya, Ankur Chaurasia, Katta M Girisha, Shalini S Nayak","doi":"10.1097/MCD.0000000000000517","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000517","url":null,"abstract":"Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.Methods: We identified a nonconsanguineous couple with recurrent pregnancy loss. Detailed phenotyping of fetuses was performed via perinatal autopsy. Genetic evaluation was performed along with split-read analysis to identify variants.Results: Perinatal phenotyping revealed an FADS in the family, and genomic testing identified novel null variants in AGRN. First, whole-exome sequencing revealed the maternally inherited heterozygous variant c.952+1_952+3del in AGRN in fetuses. Split-read analysis of the exome led to the identification of the paternally inherited second variant, a heterozygous deletion of 41.33 kb, encompassing exons 1 and 2 of AGRN.Conclusion: This study highlights the importance of incorporating split-read analysis in clinical practice and emphasizes the association of null variants in AGRN with the FADS. To the best of our knowledge, this is the second report explaining FADS and null variants in AGRN.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980567","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}

引用次数: 0

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome. 两个患有与 ROGDI 相关的 Kohlschütter-Tönz 综合征的兄弟姐妹出现肾脏钙化、远端肾小管酸中毒和骨骼异常。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-01 Epub Date: 2024-10-22 DOI: 10.1097/MCD.0000000000000509

Gayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni

{"title":"Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.","authors":"Gayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni","doi":"10.1097/MCD.0000000000000509","DOIUrl":"10.1097/MCD.0000000000000509","url":null,"abstract":"Introduction: Kohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation.Case report: Here we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS.Results: Trio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant.Conclusion: Further research needs to be done to identify the exact mechanism by which ROGDI -encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"1-5"},"PeriodicalIF":0.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512352","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}

引用次数: 0

Immune dysregulation in a dysmorphic child with 6q23.3 deletion: a single case report. 6q23.3缺失畸形儿童的免疫失调：单个病例报告。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-01 Epub Date: 2024-09-27 DOI: 10.1097/MCD.0000000000000507

Pooja Motwani, Haseena Sait

引用次数: 0

Targeted genetic testing approach in a case with characteristic clinical and radiographic findings of Roberts phocomelia syndrome. 对一例具有罗伯茨噬骨综合征特征性临床和影像学发现的病例进行有针对性的基因检测。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2025-01-01 Epub Date: 2024-09-20 DOI: 10.1097/MCD.0000000000000508

Ayşe Burcu Doğan Ari, Özge Ağlamiş Şenel, Betül Siyah Bilgin, Esra Kiliç

引用次数: 0

A girl with a de novo PPP2R5D W207R pathogenic variant was also born with an occipital encephalocele. 一名患有新发PPP2R5D W207R致病变异的女孩出生时也患有枕部脑泡。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-12-19 DOI: 10.1097/MCD.0000000000000514

Eijun Seki, Takeshi Uehara, Mamiko Yamada, Toshiki Takenouchi, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa

引用次数: 0

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature. 刚果患者伴镰状细胞性贫血的Greig头多并指连续基因综合征及文献回顾。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-12-10 DOI: 10.1097/MCD.0000000000000510

Prince Makay, Corinne Fasquelle, Gerrye Mubungu, Esther Ekolo, Aimée Mupuala, Patrick Fuanani, Ines Sonet, Benoît Charloteaux, Leonor Palmeira, Jean-Stéphane Gatot, Prosper Lukusa Tshilobo, Vincent Bours, Koenraad Devriendt, Aimé Lumaka

引用次数: 0

Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case. 1型椎体骨骺发育不良伴关节松弛的寰枢轴半脱位致小脑梗死病例。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-12-10 DOI: 10.1097/MCD.0000000000000512

Nagehan Bilgeç, Burcu Çalişkan, Saliha Yavuz Eravci, Ahmet Sami Güven, Hüseyin Çaksen

{"title":"Cerebellar infarction due to atlantoaxial subluxation in spondyloepimetaphyseal dysplasia-joint laxity type 1 case.","authors":"Nagehan Bilgeç, Burcu Çalişkan, Saliha Yavuz Eravci, Ahmet Sami Güven, Hüseyin Çaksen","doi":"10.1097/MCD.0000000000000512","DOIUrl":"https://doi.org/10.1097/MCD.0000000000000512","url":null,"abstract":"Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other. SEMD-JL1 results in impaired growth and short stature, along with increased joint flexibility leading to limb joint dislocations and progressive spinal deformity.Methods and result: Whole exome sequencing was performed on the patient's genomic DNA. A novel variant in the B3GALT6 gene was detected as homozygous. During the patient's follow-up, signs of cerebellar infarction was observed due to atlantoaxial subluxation. Posterior circulation ischemic strokes have not been described with SEMD-JL1 and it was the second case in the skeletal dysplasia group to develop posterior circulation ischemic stroke due to atlantoaxial luxation.Conclusion: Linkeropathies present with varying clinical manifestations and necessitate comprehensive genetic testing for accurate diagnosis of this complex patient group. Skeletal dysplasias, such as spondyloepimetaphyseal dysplasia, may be accompanied by atlantoaxial instability that can lead to serious spinal symptoms and even sudden death.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":""},"PeriodicalIF":0.4,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980548","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}

引用次数: 0

A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delay. 一个患有癫痫和神经发育迟缓的女孩的SMC1A基因的新生功能丧失变异。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-12-09 DOI: 10.1097/MCD.0000000000000513

Leyla Özer, Ayşegül Alpcan, Süleyman Aktuna, Serkan Tursun, Mustafa Gürkan, Nesrin Şenbil

引用次数: 0

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations. 常染色体隐性肾小管发育不良：产前超声扫描和分子研究。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-12-06 DOI: 10.1097/MCD.0000000000000511

Yang Liu, Caiqun Luo, Xiaoxia Wu, Liyuan Chen, Xiushu Cao, Hui Wang

引用次数: 0

Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. 13名患有驼背-关节病-Coxa vara-心包炎综合征的印第安人。

IF 0.4 4区医学

Clinical Dysmorphology Pub Date : 2024-10-01 Epub Date: 2024-03-22 DOI: 10.1097/MCD.0000000000000500

Swati Singh, Vaishnavi Ashok Badiger, Suma Balan, Sheela Nampoothiri, Anand Prahalad Rao, Hitesh Shah, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Katta M Girisha

{"title":"Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.","authors":"Swati Singh, Vaishnavi Ashok Badiger, Suma Balan, Sheela Nampoothiri, Anand Prahalad Rao, Hitesh Shah, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Katta M Girisha","doi":"10.1097/MCD.0000000000000500","DOIUrl":"10.1097/MCD.0000000000000500","url":null,"abstract":"Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome (MIM# 208250) is a rare monogenic disorder, characterized by early onset of camptodactyly, progressive coxa vara, bilateral arthropathy and constrictive pericarditis. The syndrome is caused by biallelic loss-of-function variants in PRG4 . Deficiency of PRG4 results in progressive worsening of joint deformity with age. Thirteen individuals with CACP syndrome from eight consanguineous Indian families were evaluated. We used exome sequencing to elucidate disease-causing variants in all the probands. These variants were further validated and segregated by Sanger sequencing, confirming the diagnosis of CACP syndrome in them. Seven females and six males aged 2-23 years were studied. Camptodactyly (13/13), coxa vara (11/13), short femoral neck (11/13) and arthritis in large joints (12/13) [wrists (11/13), ankle (11/13), elbow (10/13) and knee (10/13)] were observed commonly. Five novel disease-causing variants (c.3636G>T, c.1935del, c.1134dup, c.1699del and c.962T>A) and two previously reported variants (c.1910_1911del and c.2816_2817del) were identified in homozygous state in PRG4 . We describe the phenotype and mutations in one of the large cohorts of patients with CACP syndrome, from India.","PeriodicalId":50682,"journal":{"name":"Clinical Dysmorphology","volume":" ","pages":"152-159"},"PeriodicalIF":0.4,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297168","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}

引用次数: 0