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Scientific Publications

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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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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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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 PORCN Mutation in a Severe Case of Focal Dermal Hypoplasia

In this case report a novel PORCN heterozygous nonsense mutation was detected in exon 2 on the patient genetically diagnosing focal dermal hypoplasia. Read more!

Focal dermal hypoplasia is an unusual genetic disease that affects ectodermal and mesodermal derivatives. This is the case of an eight year old female from Colombia with multiple congenital malformations.

DermatologyNeurology
Author(s): Rolfs, Prof. Arndt, MD, Eichler, Sabrina, PhD, Ramirez-Botero, Andres Felipe, MD, Pachajoa, Harry, MD PhD
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A Recessive Form of Extreme Macrocephaly

PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far.

PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is embryonically lethal.

Dysmorphology
Author(s): Schwerd, Tobias
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Mendelian Disease Gene Identification and Diagnostics Using Targeted Next Generation Sequencing

Genomics has the potential to transform the quality of life worldwide, allowing the widespread implementation of more tailored medical care. Read more!

During the last few months we have observed for the first time since the introduction of the first massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed significantly.

NGSWES
Author(s): Rolfs, Prof. Arndt, MD, Jamra, Rami Abou, MD, Trujillano, Daniel, PhD
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