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Scientific Publications

Curious About the Latest Scientific Discoveries?

Identification of a Novel Deletion in the MMAA Gene in Two Iranian Siblings with Vitamin B12-Responsive Methylmalonic Acidemia

We demonstrate that the deletion in exon 4 of the MMAA gene is a pathogenic allele via a nucleotide frame shift. Read more!

Adenosylcobalamin (vitamin B12) is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this enzyme are a cause of methylmalonic acidemia (MMA). Methylmalonic acidemia, cblA type, is an inborn error of vitamin B12 metabolism that occurs due to mutations in the MMAA gene. MMAA encodes the enzyme which is involved in translocation of cobalamin into the mitochondria.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Keyfi, F., Moghaddassian, Morteza, Varasteh, Prof. Abdol Reza, MD, Abbaszadegan, Mohammad Reza, PhD, Orolicki, Slobodanka, MD PhD
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Robustness of Comprehensive DNA- and RNA-Based Assays at Diagnosis of Acute Myeloid Leukemia Using Blood and Bone Marrow Stored on Filter Cards

In this study, we performed a comparison of cytogenetics, FISH and molecular diagnostic assays based on standard liquid peripheral blood or bone marrow samples and on diagnostic material stored on filter cards. Read more!

“Molecular analyses in hematologic malignancies gained considerable importance in the last decade at diagnosis and for minimal residual disease (MRD). In our study, we performed a comparison of state-of-the-art cytogenetics, FISH and molecular diagnostic assays based on standard liquid peripheral blood or bone marrow samples and on diagnostic material stored on filter cards.”

CentoCard®HematologyOncology
Author(s): Haferlach, Prof. Thorsten, PhD MD, Weber, Simone, Konietschke, Rabea, Nadarajah, Niroshan, Stengel, Anna, PhD, Kern, Wolfgang, MD, Haferlach, Claudia, MD, Meggendorfer, Manja, PhD
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Multicenter Female Fabry Study (MFFS)

The aim of this study was to assess manifestations of and applied treatment concepts for females with Fabry disease according to the current European Guidelines. Read more!

The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry centers were retrospectively analyzed. Clinical presentation and laboratory data, including plasma lyso-Gb3 levels were assessed.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Wanner, Christoph, MD, Weidemann, Frank, MD, Duning, Prof. Thomas, MD, Lenders, Malte, PhD, Hennermann, Prof. Julia B., MD, Kurschat, Christine Elisabeth, MD, Canaan-Kühl, Sima, MD, Sommer, Prof. Claudia, MD, Üçeyler, Prof. Nurcan, MD, Kampmann, Christopf, MD PhD, Karabul, Nesrin, MD, Stypmann, Prof. Jörg, MD, Krämer, Johannes, MD, Brand, Prof. Stefan-Martin, MD PhD, Brand, Prof. Eva, MD PhD
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Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease

The aim of the present study was to evaluate the diagnostic value of cTnI using a contemporary sensitive troponin I assay. Read more!

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting hemizygous males and heterozygous females. The intracellular storage affects different organ systems, causing severe alteration. The aim of the present study was to evaluate the diagnostic value of cTnI using a contemporary sensitive troponin I assay in order to discriminate FD patients with cardiac involvement in a large FD patient cohort.

CardiovascularMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Tanislav, Prof. Christian, MD, Guenduez, Dursun, MD, Liebetrau, Christoph, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Sieweke, Nicole, MD, Speth, Maria, MD, Bauer, Prof. Timm, MD, Hamm, Prof. Christian, MD
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Niemann–Pick Type C in Early-Onset Ataxia

Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, EOA presents a promising target group for undiagnosed NP-C patients.

Niemann-Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85-90 % of cases, EOA presents a promising target group for undiagnosed NP-C patients.

BiomarkerMetabolic Disorders
Author(s): Synofzik, Matthis, MD
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Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C

In this publication we report the first patient with Niemann-Pick disease type C associated with a deletion of two exons in NPC2. Read more!

Niemann–Pick disease type C (MIM 607625; NP-C) is an autosomal recessive, lysosomal storage disorder caused by impaired cholesterol and glycolipid trafficking due to pathogenic variations in either NPC1 (accounting for more than 95% of cases) or NPC2 [Park et al., 2003]. Here we report the first patient with NP-C associated with a deletion of two exons in NPC2.

Metabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Hebbar, Malavika, MD, Prasad L., Harsha, MD, Bhowmik, Aneek Das, PhD, Chakraborti, Shrijeet, MD, Kandaswamy, Krishna Kumar, PhD, Kamath, Prof. Nutan, MD, Dalal, Ashwin, MD, Bielas, Stephanie, PhD
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Cutaneous Freckling: Possible new Clinical Marker

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of ceroid lipofuscin, granulomatous colitis, and pulmonary fibrosis that is often fatal.

Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of ceroid lipofuscin, granulomatous colitis, and pulmonary fibrosis that is often fatal.

Ophthalmology
Author(s): Arcot Sadagopan, K
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Characterization of the Novel Indolylmaleimides’

Protein kinase inhibitors are widely used in chemotherapeutic cancer regimens. Maleimide derivatives such as SB-216763 act as GSK-3 inhibitor targeting cell proliferation, cell death and cell cycle progression.

Protein kinase inhibitors are widely used in chemotherapeutic cancer regimens. Maleimide derivatives such as SB-216763 act as GSK-3 inhibitor targeting cell proliferation, cell death and cell cycle progression.

Oncology
Author(s): Liu, W
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Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)

We report the results of the first whole exome sequencing (WES) of an ALCAPA patient who has been followed for 8 years. Read more!

Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live births. Herein we report the results of the first whole exome sequencing (WES) of an ALCAPA patient who has been followed for 8 years; his clinical course was described previously elsewhere (Türkmen et al., 2014).

CardiovascularWES
Author(s): Rolfs, Prof. Arndt, MD, Trujillano, Daniel, PhD, Hekim, Prof. Nezih, PhD, Batyraliev, Prof. Talantbek, MD, Wang, Prof. Wei, PhD, Dandara, Collet, PhD, Karben, Prof. Zarema, MD, Saygılı, Eyüp Ilker, PhD, Cetin, Prof. Zafer, PhD, Mihcioglu, Deniz, Türkmen, Prof. Serdar, MD, Ali İkidağ, Mehmet, PhD, Ali Cüce, Mehmet
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A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy

We examined a child from a consanguineous family who had amongst others short stature and narrow thorax. This is the first report of a human disease associated with IFT52. Read more!

Intraflagellar transport (IFT) is vital for the functioning of primary cilia. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. This is the first report of a human disease associated with IFT52.

DysmorphologyWES
Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, MD, Kadavigere, Rajagopal, MD
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Biallelic Truncating Mutations in ALPK3

Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases.

Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases.

Cardiovascular
Author(s): Almomani, R
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A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy

Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein. Read more!

Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.

DysmorphologyOsteologyWES
Author(s): Rolfs, Prof. Arndt, MD, Girisha, Katta, MD, Shukla, Anju, MD, Trujillano, Daniel, PhD, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, MD, Kadavigere, Rajagopal, MD
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Pluripotent Stem Cells

Pluripotent stem cells have the ability to undergo self-renewal and to give rise to all cells of the tissues of the body. However, this definition has been recently complicated by the existence of distinct cellular states that display these features.

Pluripotent stem cells have the ability to undergo self-renewal and to give rise to all cells of the tissues of the body. However, this definition has been recently complicated by the existence of distinct cellular states that display these features.

Biomarker
Author(s): Romito, Antonio, PhD, Cobellis, G
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Broadening the Phenotypic Spectrum of Pathogenic LARP7 Variants: Two Cases with Intellectual Disability, Variable Growth Retardation and Distinct Facial Features

To further delineate the phenotype associated with LARP7 mutations, we report two additional cases originating from the Netherlands and Saudi Arabia. Read more!

In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. Our cases broaden the associated clinical features of the syndrome and contribute to the delineation of the phenotypic spectrum of LARP7 mutations.

DysmorphologyWES
Author(s): Rolfs, Prof. Arndt, MD, Hollink, Iris, PhD, Alfadhel, Majid, MD, Al-Wakeel, Anwar, MD, Ababneh, Farough, Pfundt, Rolph, PhD, de Man, Stella A., MD, Jamra, Rami Abou, MD, Bertoli-Avella, Aida M., MD, van de Laar, Ingrid, MD
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A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing

In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing. Read more!

The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this study we report on a novel heterozygous mutation in SOX18 in a Jordanian patient suffering from HLTS that was revealed by Whole Exome Sequencing.

DermatologyWES
Author(s): Bastaki, Fatma, MD, Mohamed, Madiha, MD, Nair, Pratibha, Saif, Fatima, MD, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, PhD, Brandau, Oliver, MD, Hamzeh, Abdul Rezzak, PhD
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