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  1. Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogen...

    Authors: Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang and Shiguo Liu
    Citation: BMC Medical Genetics 2019 20:146
    Content type: Case report Published on:

  2. Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 g...

    Authors: Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka and Asma Gul
    Citation: BMC Medical Genetics 2019 20:145
    Content type: Research article Published on:

  3. Polycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and ...

    Authors: Asma A. Batarfi, Najlaa Filimban, Osama S. Bajouh, Ashraf Dallol, Adeel G. Chaudhary and Sherin Bakhashab
    Citation: BMC Medical Genetics 2019 20:144
    Content type: Research article Published on:

  4. Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome typ...

    Authors: Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi and Mahsa M. Amoli
    Citation: BMC Medical Genetics 2019 20:143
    Content type: Case report Published on:

  5. Various studies have investigated the relationship between the polymorphism, rs2596542, in the promoter of the major histocompatibility complex class I-related gene A (MICA) gene with susceptibility to hepatitis ...

    Authors: Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng and Min Ye
    Citation: BMC Medical Genetics 2019 20:142
    Content type: Research article Published on:

  6. This meta-analysis was performed to evaluate the relationship between hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism and the susceptibility to renal cell carcinoma (RCC) and prostate cancer (PCa).

    Authors: Hong-Yan Li, Tianbiao Zhou, Wenshan Lin, Shujun Lin and Hongzhen Zhong
    Citation: BMC Medical Genetics 2019 20:141
    Content type: Research article Published on:

  7. Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that influence development of SMA and inefficient erythropoiesis, a central pathogeni...

    Authors: Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong’echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins and Evans Raballah
    Citation: BMC Medical Genetics 2019 20:140
    Content type: Research article Published on:

  8. Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments hav...

    Authors: Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang and Lingrong Kong
    Citation: BMC Medical Genetics 2019 20:139
    Content type: Research article Published on:

  9. Reference genes are often interchangeably called housekeeping genes due to 1) the essential cellular functions their proteins provide and 2) their constitutive expression across a range of normal and pathophys...

    Authors: Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof and Amy S. Rosenberg
    Citation: BMC Medical Genetics 2019 20:138
    Content type: Research article Published on:

  11. Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nat...

    Authors: Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca and Sjarif Hidajat Effendi
    Citation: BMC Medical Genetics 2019 20:136
    Content type: Research article Published on:

  12. Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosi...

    Authors: Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai and Ling-Li Wang
    Citation: BMC Medical Genetics 2019 20:135
    Content type: Research article Published on:

  13. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ...

    Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao
    Citation: BMC Medical Genetics 2019 20:134
    Content type: Case report Published on:

  14. Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal join...

    Authors: Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu and Xiong Wang
    Citation: BMC Medical Genetics 2019 20:133
    Content type: Research article Published on:

  15. FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES ty...

    Authors: Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski and Mirosław Wielgoś
    Citation: BMC Medical Genetics 2019 20:132
    Content type: Case report Published on:

  16. CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant....

    Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas
    Citation: BMC Medical Genetics 2019 20:131
    Content type: Case report Published on:

  17. Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (O...

    Authors: Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu and Jing Wang
    Citation: BMC Medical Genetics 2019 20:130
    Content type: Case report Published on:

  18. Several studies have been performed to investigate the associations between interleukin (IL)-8 rs4073 polymorphism and acute pancreatitis (AP), but the results are inconclusive. We conducted this cumulative me...

    Authors: Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang and Dongliang Liu
    Citation: BMC Medical Genetics 2019 20:129
    Content type: Research article Published on:

  19. Increasingly, molecular measurements from multiple studies are pooled to identify risk scores, with only partial overlap of measurements available from different studies. Univariate analyses of such markers ha...

    Authors: Anne-Sophie Stelzer, Livia Maccioni, Aslihan Gerhold-Ay, Karin E. Smedby, Martin Schumacher, Alexandra Nieters and Harald Binder
    Citation: BMC Medical Genetics 2019 20:128
    Content type: Technical advance Published on:

  20. CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growt...

    Authors: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė
    Citation: BMC Medical Genetics 2019 20:127
    Content type: Case report Published on:

  21. Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatologic...

    Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura
    Citation: BMC Medical Genetics 2019 20:126
    Content type: Case report Published on:

  22. Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease...

    Authors: Friedrich Kueppers, Mark D. Andrake, Qifang Xu, Roland L. Dunbrack Jr, Joannah Kim and Christopher L. Sanders
    Citation: BMC Medical Genetics 2019 20:125
    Content type: Research article Published on:

  23. The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two u...

    Authors: Guo-min Li, Hai-mei Liu, Wan-zhen Guan, Hong Xu, Bing-bing Wu and Li Sun
    Citation: BMC Medical Genetics 2019 20:124
    Content type: Case report Published on:

  24. Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lys...

    Authors: Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov and Ekaterina Y. Zakharova
    Citation: BMC Medical Genetics 2019 20:123
    Content type: Research article Published on:

  25. Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the...

    Authors: Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat and Nader Shakibazad
    Citation: BMC Medical Genetics 2019 20:122
    Content type: Case report Published on:

  26. The mitochondrial genotype 5178 cytosine/adenine (5178 C > A) within the NADH dehydrogenase subunit-2 gene (ND2) was proved to associate with longevity and predispose resistance to adult-onset diseases. This s...

    Authors: Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin and Yang Li
    Citation: BMC Medical Genetics 2019 20:121
    Content type: Research article Published on:

  28. Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegi...

    Authors: Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega and Anas M. Alazami
    Citation: BMC Medical Genetics 2019 20:119
    Content type: Case report Published on:

  29. Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead t...

    Authors: Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer and Andrew J. Griffith
    Citation: BMC Medical Genetics 2019 20:118
    Content type: Research article Published on:

  30. Mesenchymal stem cells (MSCs) are attractive choices in regenerative medicine and can be genetically modified to obtain better results in therapeutics. Bone development and metabolism are controlled by various...

    Authors: Samaneh Mollazadeh, Bibi Sedigheh Fazly Bazzaz, Vajiheh Neshati, Antoine A. F. de Vries, Hojjat Naderi-Meshkin, Majid Mojarad, Mahdi Mirahmadi, Zeinab Neshati and Mohammad Amin Kerachian
    Citation: BMC Medical Genetics 2019 20:117
    Content type: Research article Published on:

  31. Preterm birth is a significant clinical problem and an enormous burden on society, affecting one in eight pregnant women and their newborns. Despite decades of research, the molecular mechanism underlying its ...

    Authors: Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori and James F. Padbury
    Citation: BMC Medical Genetics 2019 20:116
    Content type: Research article Published on:

  32. Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. Our aim was to establish a rapid, lo...

    Authors: Ngo Tat Trung, Dao Thanh Quyen, Nghiem Xuan Hoan, Dao Phuong Giang, Tran Thi Huyen Trang, Thirumalaisamy P. Velavan, Mai Hong Bang and Le Huu Song
    Citation: BMC Medical Genetics 2019 20:115
    Content type: Research article Published on:

  33. Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-H...

    Authors: Lika’a Fasih Y. Al-Kzayer, Hanadi Munaf H. Al-Aradi, Tomonari Shigemura, Kenji Sano, Miyuki Tanaka, Motoharu Hamada, Kenan Hussien Ali, Osamah Mohammed Aldaghir, Yozo Nakazawa and Yusuke Okuno
    Citation: BMC Medical Genetics 2019 20:114
    Content type: Case report Published on:

  34. This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute reje...

    Authors: Hong-Yan Li, Tianbiao Zhou, Shujun Lin and Wenshan Lin
    Citation: BMC Medical Genetics 2019 20:113
    Content type: Research article Published on:

  35. Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain...

    Authors: A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez and M. L. Couce
    Citation: BMC Medical Genetics 2019 20:112
    Content type: Case report Published on:

  36. Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. The sit...

    Authors: Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li and Li Wang
    Citation: BMC Medical Genetics 2019 20:111
    Content type: Research article Published on:

  37. Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene. Only a few Chinese...

    Authors: Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang and Qingliu Fu
    Citation: BMC Medical Genetics 2019 20:110
    Content type: Case report Published on:

  38. Gallstone disease (GSD) is a common biliary tract disease worldwide. Previous studies have investigated the association of apolipoprotein E (APOE) E4 with GSD and reported inconsistent results.

    Authors: Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao and Jingyun Yang
    Citation: BMC Medical Genetics 2019 20:109
    Content type: Research article Published on:

  39. Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplica...

    Authors: Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit and Vajira Harshadeva Weerabaddana Dissanayake
    Citation: BMC Medical Genetics 2019 20:108
    Content type: Case report Published on:

  40. Type 2 diabetes mellitus is believed to be a polygenic disorder that develops as a result of a complex interaction between multiple genes and environmental factors. KCNJ11 gene encodes a Kir6.2 protein which f...

    Authors: Osama Makhzoom, Younes Kabalan and Faizeh AL-Quobaili
    Citation: BMC Medical Genetics 2019 20:107
    Content type: Research article Published on:

  41. Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectiv...

    Authors: Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng and Xin Fan
    Citation: BMC Medical Genetics 2019 20:106
    Content type: Research article Published on:

  42. Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcri...

    Authors: Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan and Jingming Shi
    Citation: BMC Medical Genetics 2019 20:105
    Content type: Research article Published on:

  43. A multidirectional relationship has been demonstrated between myocardial infarction (MI) and depression. However, the causal genetic factors and molecular mechanisms underlying this interaction remain unclear....

    Authors: Zhenguo Dai, Qian Li, Guang Yang, Yini Wang, Yang Liu, Zhilei Zheng, Yingfeng Tu, Shuang Yang and Bo Yu
    Citation: BMC Medical Genetics 2019 20:104
    Content type: Research article Published on:

  44. Ovarian cancer (OC) is the most deadly gynaecological cancer, contributing significantly to female cancer-related deaths worldwide. Improving the outlook for OC patients depends on the identification of more r...

    Authors: Qian Zhao and Conghong Fan
    Citation: BMC Medical Genetics 2019 20:103
    Content type: Research article Published on:

  45. Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, geneti...

    Authors: Javier E. Anaya-Ayala, Susana Hernandez-Doño, Monica Escamilla-Tilch, Jose Marquez-Garcia, Kemberly Hernandez-Sotelo, Rodrigo Lozano-Corona, Daniela Ruiz-Gomez, Julio Granados and Carlos A. Hinojosa
    Citation: BMC Medical Genetics 2019 20:102
    Content type: Research article Published on:

  46. N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NA...

    Authors: Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, Sally Ann Lynch and Thomas Arnesen
    Citation: BMC Medical Genetics 2019 20:101
    Content type: Research article Published on:

  47. Cervical cancer has high prevalence and mortality rates in worldwide female population. Persistent infection by high-risk Human Papillomavirus (hr-HPV) is the main cause of this cancer. However, many environme...

    Authors: Nayara Nascimento Toledo Silva, Adriano de Paula Sabino, Alexandre Tafuri and Angélica Alves Lima
    Citation: BMC Medical Genetics 2019 20:100
    Content type: Research article Published on:

  48. Metabolic syndrome (MetS), defined as a cluster of metabolic risk factors including dyslipidemia, insulin-resistance, and elevated blood pressure, has been known as partly heritable. MetS effects the lives of ...

    Authors: Sokanha Kong and Yoon Shin Cho
    Citation: BMC Medical Genetics 2019 20:99
    Content type: Research article Published on:

  49. X-linked Adrenal Hypoplasia Congenita (AHC) is a rare cause of primary adrenal insufficiency due to mutations in the NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insuffici...

    Authors: Lorenzo Iughetti, Laura Lucaccioni, Patrizia Bruzzi, Silvia Ciancia, Elena Bigi, Simona Filomena Madeo, Barbara Predieri and Florence Roucher-Boulez
    Citation: BMC Medical Genetics 2019 20:98
    Content type: Case report Published on:

  50. Metabolic syndrome (MetS) is characterized by a clustering of cardiovascular risk factors that include: abdominal obesity, dyslipidemia, hypertension and glucose intolerance. Angiopoietin-like protein 4 (ANGPT...

    Authors: Sara Kharazmi-Khorassani, Jasmin Kharazmi-Khorassani, Azam Rastegar-Moghadam, Sara Samadi, Hamideh Ghazizadeh, Maryam Tayefi, Gordon A. Ferns, Majid Ghayour-Mobarhan, Amir Avan and Habibollah Esmaily
    Citation: BMC Medical Genetics 2019 20:97
    Content type: Research article Published on:

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