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Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  1. Mutations in MYLK cause non-syndromic familial thoracic aortic aneurysms and dissections (FTAAD). Very little is known about the phenotype of affected families. We sought to characterize the aortic disease and th...

    Authors: Matias Hannuksela, Eva-Lena Stattin, Joakim Klar, Adam Ameur, Bengt Johansson, Karen Sörensen and Bo Carlberg
    Citation: BMC Medical Genetics 2016 17:61
    Content type: Research article Published on:

  2. Nonsyndromic orofacial cleft is a common birth defect with a complex etiology, including multiple genetic and environmental risk factors. Recent whole genome analyses suggested associations between nonsyndromi...

    Authors: Hsiu-Huei Peng, Nai-Chung Chang, Kuo-Ting Chen, Jang-Jih Lu, Pi-Yueh Chang, Shih-Cheng Chang, Yah-Huei Wu-Chou, Yi-Ting Chou, Wanni Phang and Po-Jen Cheng
    Citation: BMC Medical Genetics 2016 17:59
    Content type: Research article Published on:

  3. Mucopolysaccharidosis I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a lack of the lysosomal enzyme α-L-iduronidase (IDUA). To date, more than 200 IDUA mutations have been reported. Howe...

    Authors: Min Jung Kwak, Rimm Huh, Jinsup Kim, Hyung-Doo Park, Sung Yoon Cho and Dong-Kyu Jin
    Citation: BMC Medical Genetics 2016 17:58
    Content type: Research article Published on:

  4. Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I...

    Authors: Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, Menachem Sadeh, Ron Dabby, Rachel Straussberg, Ilan Shelef, Daniel Dayan, Leslie Anne Leinwand and Ohad S. Birk
    Citation: BMC Medical Genetics 2016 17:57
    Content type: Research article Published on:

  6. WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein show...

    Authors: Loai Elsaadany, Mahmoud El-Said, Rehab Ali, Hussein Kamel and Tawfeg Ben-Omran
    Citation: BMC Medical Genetics 2016 17:53
    Content type: Case report Published on:

  7. Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause ...

    Authors: Libe Gradstein, Jenny Zolotushko, Yuri V. Sergeev, Itay Lavy, Ginat Narkis, Yonatan Perez, Sarah Guigui, Dror Sharon, Eyal Banin, Eyal Walter, Tova Lifshitz and Ohad S. Birk
    Citation: BMC Medical Genetics 2016 17:52
    Content type: Research article Published on:

  9. Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the cli...

    Authors: Hui Yao, Chuanchun Yang, Xiaoli Huang, Luhong Yang, Wei Zhao, Dan Yin, Yuan Qin, Feng Mu, Lin Liu, Ping Tian, Zhisheng Liu and Yun Yang
    Citation: BMC Medical Genetics 2016 17:49
    Content type: Case report Published on:

  10. von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, re...

    Authors: Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park and Moon-Woo Seong
    Citation: BMC Medical Genetics 2016 17:48
    Content type: Research article Published on:

  11. Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulth...

    Authors: Nadia Carstens, Susan Williams, Saadiah Goolam, Trevor Carmichael, Ming Sin Cheung, Stine Büchmann-Møller, Marc Sultan, Frank Staedtler, Chao Zou, Peter Swart, Dennis S. Rice, Arnaud Lacoste, Kim Paes and Michèle Ramsay
    Citation: BMC Medical Genetics 2016 17:47
    Content type: Research article Published on:

  12. The serum glutathione S-transferase alpha (α-GST) concentration has been used as a marker of hepatic condition. After sevoflurane anaesthesia a mild impairment of hepatocellular integrity was observed. Genetic...

    Authors: Adam Mikstacki, Marzena Skrzypczak-Zielinska, Oliwia Zakerska-Banaszak, Barbara Tamowicz, Maria Skibinska, Marta Molinska-Glura, Marlena Szalata and Ryszard Slomski
    Citation: BMC Medical Genetics 2016 17:40
    Content type: Research article Published on:

  13. Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is...

    Authors: Daniel F. Garcia, José S. Camelo Jr, Greice A. Molfetta, Marlene Turcato, Carolina F. M. Souza, Gilda Porta, Carlos E. Steiner and Wilson A. Silva Jr
    Citation: BMC Medical Genetics 2016 17:39
    Content type: Research article Published on:

  14. Osteogenesis Imperfecta (OI) (OMIM %259450) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. The majority of OI cas...

    Authors: Carla M. Kaneto, Patrícia S. P. Lima, Dalila Lucíola Zanette, Thiago Yukio Kikuchi Oliveira, Francisco de Assis Pereira, Julio Cesar Cetrulo Lorenzi, Jane Lima dos Santos, Karen L. Prata, João M. Pina Neto, Francisco J. A. de Paula and Wilson A. Silva Jr.
    Citation: BMC Medical Genetics 2016 17:38
    Content type: Research article Published on:

  15. Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutati...

    Authors: Viviana Karina Dalamón, Paula Buonfiglio, Margarita Larralde, Patricio Craig, Vanesa Lotersztein, Keith Choate, Norma Pallares, Vicente Diamante and Ana Belén Elgoyhen
    Citation: BMC Medical Genetics 2016 17:37
    Content type: Case report Published on:

  16. Maturity onset diabetes of the young (MODY) is an autosomal dominant form of non–insulin-dependent diabetes mellitus caused by mutations in at least 13 different genes. The hepatocyte nuclear factor (HNF)-1α gene...

    Authors: Birgit Knebel, Susanne Mack, Jutta Haas, Mona Kathrin Herman-Friede, Simone Lange, Oliver Schubert, Jorg Kotzka and Dirk Muller-Wieland
    Citation: BMC Medical Genetics 2016 17:36
    Content type: Case report Published on:

  17. The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recur...

    Authors: Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, Wouter F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen…
    Citation: BMC Medical Genetics 2016 17:35
    Content type: Research article Published on:

  18. Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ...

    Authors: Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude…
    Citation: BMC Medical Genetics 2016 17:34
    Content type: Research article Published on:

  19. Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the PHKA2 mutation spectrum in Korea...

    Authors: Rihwa Choi, Hyung-Doo Park, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song and Yon Ho Choe
    Citation: BMC Medical Genetics 2016 17:33
    Content type: Research article Published on:

  20. Neonatal diabetes is a rare form of monogenic diabetes with onset in the first six months of life occurring in 1/100,000 to 1/400,000 births. Both permanent and transient forms have been described. Permanent n...

    Authors: Tamara McMillan, Rose Girgis and Elizabeth A. C. Sellers
    Citation: BMC Medical Genetics 2016 17:32
    Content type: Case report Published on:

  21. Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8–36 % of cases, and display an autosomal dominant inheritance w...

    Authors: Emmanuelle Souzeau, Kathryn P. Burdon, Bronwyn Ridge, Andrew Dubowsky, Jonathan B. Ruddle and Jamie E. Craig
    Citation: BMC Medical Genetics 2016 17:30
    Content type: Case report Published on:

  22. Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To furthe...

    Authors: Katta Mohan Girisha, Abdul Mueed Bidchol, Luitgard Graul-Neumann, Ashish Gupta, Ute Hehr, Davor Lessel, Sean Nader, Hitesh Shah, Julia Wickert and Kerstin Kutsche
    Citation: BMC Medical Genetics 2016 17:27
    Content type: Research article Published on:

  23. Myosin heavy chain 7 related myopathies are rare disorders characterized by a wide phenotypic spectrum and heterogeneous pathological features. In the present study, we performed clinical, morphological, genet...

    Authors: Guja Astrea, Antonio Petrucci, Denise Cassandrini, Marco Savarese, Rosanna Trovato, Ludovico Lispi, Anna Rubegni, Manlio Giacanelli, Roberto Massa, Vincenzo Nigro and Filippo M. Santorelli
    Citation: BMC Medical Genetics 2016 17:25
    Content type: Case report Published on:

  24. The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-g...

    Authors: Yanling Dong, Yuting Yi, Hong Yao, Ziying Yang, Huamei Hu, Jiucheng Liu, Changxin Gao, Ming Zhang, Liying Zhou, Asan, Xin Yi and Zhiqing Liang
    Citation: BMC Medical Genetics 2016 17:23
    Content type: Research article Published on:

  25. Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain ...

    Authors: Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito and Donatella Milani
    Citation: BMC Medical Genetics 2016 17:22
    Content type: Case report Published on:

  26. Silver-Russell syndrome (SRS) is a growth retardation disorder with a very broad molecular and clinical spectrum. Whereas the association of SRS with imprinting disturbances of chromosomes 11p15.5 and 7 is gen...

    Authors: Jana Sachwitz, Getrud Strobl-Wildemann, György Fekete, Laima Ambrozaitytė, Vaidutis Kučinskas, Lukas Soellner, Matthias Begemann and Thomas Eggermann
    Citation: BMC Medical Genetics 2016 17:20
    Content type: Research article Published on:

  28. Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrom...

    Authors: Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment and Hussein Daoud
    Citation: BMC Medical Genetics 2016 17:15
    Content type: Case report Published on:

  29. Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of s...

    Authors: Guolong Zhang, Minhua Shao, Zhixiu Li, Yong Gu, Xufeng Du, Xiuli Wang and Ming Li
    Citation: BMC Medical Genetics 2016 17:14
    Content type: Research article Published on:

  30. Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susce...

    Authors: Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal and Wasim Ahmad
    Citation: BMC Medical Genetics 2016 17:13
    Content type: Research article Published on:

  31. Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal degeneration, truncal obesity, postaxial polydactyly, genital anomaly, intellectual d...

    Authors: Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair and Christian Windpassinger
    Citation: BMC Medical Genetics 2016 17:10
    Content type: Research article Published on:

  32. Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to pe...

    Authors: Wei Wen, Dan Yin, Fangfang Huang, Meng Guo, Tian Tian, Hui Zhu and Yun Yang
    Citation: BMC Medical Genetics 2016 17:9
    Content type: Case report Published on:

  33. Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also f...

    Authors: Pedro Rodenas-Cuadrado, Nicola Pietrafusa, Teresa Francavilla, Angela La Neve, Pasquale Striano and Sonja C. Vernes
    Citation: BMC Medical Genetics 2016 17:8
    Content type: Case report Published on:

  34. One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutama...

    Authors: Nari Ryu, Borum Sagong, Hong-Joon Park, Min-A Kim, Kyu-Yup Lee, Jae Young Choi and Un-Kyung Kim
    Citation: BMC Medical Genetics 2016 17:6
    Content type: Research article Published on:

  36. Hemangioma is a common benign tumor in the childhood; however our knowledge about the molecular mechanisms of hemangioma development and progression are still limited. Currently, microRNAs (miRNAs) have been s...

    Authors: Natália Bertoni, Lied M. S. Pereira, Fábio E. Severino, Regina Moura, Winston B. Yoshida and Patricia P. Reis
    Citation: BMC Medical Genetics 2016 17:4
    Content type: Research article Published on:

  37. Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessi...

    Authors: Zuhair N. Al-Hassnan, Zarghuna MA. Shinwari, Salma M. Wakil, Sahar Tulbah, Shamayel Mohammed, Zuhair Rahbeeni, Mohammed Alghamdi, Monther Rababh, Dilek Colak, Namik Kaya, Majid Al-Fayyadh and Jehad Alburaiki
    Citation: BMC Medical Genetics 2016 17:3
    Content type: Research article Published on:

  38. The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have bee...

    Authors: Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr and David T. Bonthron
    Citation: BMC Medical Genetics 2016 17:1
    Content type: Research article Published on:

  39. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms th...

    Authors: Teresa Trenkwalder, Isabel Deisenhofer, Martin Hadamitzky, Heribert Schunkert and Wibke Reinhard
    Citation: BMC Medical Genetics 2015 16:117
    Content type: Case report Published on:

  40. Deletions of the α-globin genes are the most common genetic abnormalities in the world. Currently multiplex Gap-PCRs are frequently used to identify specific sets of common deletions. However, these assays req...

    Authors: Andrew Turner, Jurgen Sasse and Aniko Varadi
    Citation: BMC Medical Genetics 2015 16:115
    Content type: Technical advance Published on:

  41. Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutation...

    Authors: Lena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, Svend Rand-Hendriksen, Odd Geiran, Eirik Frengen and Benedicte Paus
    Citation: BMC Medical Genetics 2015 16:113
    Content type: Research article Published on:

  42. The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onse...

    Authors: Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A. Chioza, Tribhuvan M. Mohapatra, Emma L. Baple, Michael A. Patton, Thomas T. Warner, Christos Proukakis, Abhi Kulkarni and Andrew H. Crosby
    Citation: BMC Medical Genetics 2015 16:104
    Content type: Research article Published on:

  43. In humans, Mammalian Target of Rapamycin (MTOR) encodes a 300 kDa serine/ threonine protein kinase that is ubiquitously expressed, particularly at high levels in brain. MTOR functions as an integrator of multiple...

    Authors: Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson and Sha Tang
    Citation: BMC Medical Genetics 2015 16:102
    Content type: Case report Published on:

  44. Spinal muscular atrophy (SMA) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, SMN1. Most chromosome 5 homologs have a functional gene and dysfunctional copy, SMN2, ...

    Authors: Jessica L. Larson, Ari J. Silver, Dalin Chan, Carlos Borroto, Brett Spurrier and Lee M. Silver
    Citation: BMC Medical Genetics 2015 16:100
    Content type: Technical advance Published on:

  45. Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypert...

    Authors: Patrizia Dello Russo, Alessandra Franzoni, Federica Baldan, Cinzia Puppin, Giovanna De Maglio, Carla Pittini, Luigi Cattarossi, Stefano Pizzolitto and Giuseppe Damante
    Citation: BMC Medical Genetics 2015 16:94
    Content type: Case report Published on:

  46. Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy.

    Authors: Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F Kingsmore and Nicole P Safina
    Citation: BMC Medical Genetics 2015 16:31
    Content type: Case report Published on:

  47. Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the...

    Authors: Helen Fryssira, Stella Amenta, Deniz Kanber, Christalena Sofocleous, Evangelia Lykopoulou, Christina Kanaka-Gantenbein, Flavia Cerrato, Hermann-Josef Lüdecke, Susanne Bens, Andrea Riccio and Karin Buiting
    Citation: BMC Medical Genetics 2015 16:30
    Content type: Case report Published on:

  48. Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. ly...

    Authors: Patrick Frosk, Bernard Chodirker, Louise Simard, Wael El-Matary, Ana Hanlon-Dearman, Jeremy Schwartzentruber, Jacek Majewski and Cheryl Rockman-Greenberg
    Citation: BMC Medical Genetics 2015 16:28
    Content type: Case report Published on:

  49. Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentatio...

    Authors: Chuan Li, Rongyu Chen, Xin Fan, Jingsi Luo, Jiale Qian, Jin Wang, Bobo Xie, Yiping Shen and Shaoke Chen
    Citation: BMC Medical Genetics 2015 16:23
    Content type: Case report Published on:

  50. In humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to ide...

    Authors: Grażyna T Truszkowska, Zofia T Bilińska, Joanna Kosińska, Justyna Śleszycka, Małgorzata Rydzanicz, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Maria Bilińska, Piotr Stawiński, Ewa Michalak, Łukasz A Małek, Przemysław Chmielewski, Bogna Foss-Nieradko, Marcin M Machnicki, Tomasz Stokłosa, Joanna Ponińska…
    Citation: BMC Medical Genetics 2015 16:21
    Content type: Research article Published on:

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