A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation [0.03%]
土耳其一名WNT7A基因阴性畸形双胞胎女性患者并发腓骨发育不全、先天性假关节胫骨和并指症
Hale Önder Yılmaz,Duran Topak,Orkun Yılmaz et al.
Hale Önder Yılmaz et al.
We report a rare limb defect named as fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome in a female monozygotic twin with a normal twin sister, presented with anterior tibia pseudarthrosis, oligosyndactyly, and pes eq...
Report of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency [0.03%]
碳酸酐酶II缺乏另一突变的确证报告
Amit Kumar Satapathy,Swati Pandey,Madhumita Roy Chaudhary et al.
Amit Kumar Satapathy et al.
Carbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We report a classic case of CA II-associated osteopetrosis with ...
Mohanageetha Ardhanari,Deborah Barbouth,Sethuraman Swaminathan
Mohanageetha Ardhanari
Mutations in fibrillin 1 cause Marfan syndrome (MFS), an autosomal dominant disorder of the connective tissue, with multisystem manifestations. In early-onset MFS, the physical characteristics are expressed much earlier than the classical M...
Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene [0.03%]
印度婴儿Prosapotin基因双等位基因新突变导致的急性Gaucher类疾病病例报告
Akella Radha Rama Devi,Srilatha Kadali,Ananthaneni Radhika et al.
Akella Radha Rama Devi et al.
This is the first reported case of prosaposin ( PSAP ) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hep...
First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene [0.03%]
CLMP基因突变导致的短肠综合症患者的首次报道
Jalal Gharesouran,Behnaz Salek Esfahani,Saeed Farajzadeh Valilou et al.
Jalal Gharesouran et al.
Congenital short bowel syndrome (CSBS) is a rare congenital neonatal disorder. CSBS results from intestinal impairment during embryogenesis. Mutated CXADR-like membrane protein ( CLMP ) and Filamin A genes are involved in the cause of CSBS....
Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father [0.03%]
经典埃勒斯-丹洛斯综合征一名患者及其接受过心脏移植手术的父亲的病例报告
Paushpala Sen,Merlin G Butler
Paushpala Sen
We report a 13-year-old male patient with severe orthopedic problems including features of a connective tissue disorder and a heterozygous c.305T > A variant found within exon 3 of the autosomal dominant collagen ( COL5A1 ) gene causing the...
Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series [0.03%]
在体罚背景下解读成骨不全变异病例系列研究
Jennifer Canter,Vinod B Rao,Vincent J Palusci et al.
Jennifer Canter et al.
Unexplained childhood fracture(s) warrant consideration of physical abuse and osteogenesis imperfecta (OI). Genetic OI testing may identify "variants of unknown significance (VUS)." Interpretation of VUS in context of potential abuse may ha...
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families [0.03%]
白俄罗斯两家族携带PNKP常见“葡萄牙型”突变和新突变的第四种眼运动障碍性小脑萎缩症病例报告
Galina E Rudenskaya,Andrey V Marakhonov,Olga A Shchagina et al.
Galina E Rudenskaya et al.
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two ...
Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan [0.03%]
密歇根州新生儿筛查中发现的轻度持续性孤立型高蛋氨酸血症
Kuntal Sen,Michael D Felice,Allison Bannick et al.
Kuntal Sen et al.
Methionine S-adenosyltransferase deficiency, due to mutations in MAT1A , is the most common cause of persistent isolated hypermethioninemia (PIH). While the recessive form may cause neurological consequences, the dominant form is typically ...
Prevalence and Genetic Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency in Anemic Subjects from Uttar Pradesh, India [0.03%]
印度北方邦贫血患者中的葡萄糖-6-磷酸脱氢酶缺乏的患病率和基因特征
Poonam Tripathi,Sarita Agarwal,Srinivasan Muthuswamy
Poonam Tripathi
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by one or more mutations in the G6PD gene on chromosome X. It affects approximately 400 million people worldwide. The purpose of this study was to detect the prevalence of G6PD d...