Article
Genetics & Heredity
Aafke Engwerda, Wilhelmina S. Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts
Summary: This study from the Netherlands investigates terminal 6q deletions and identifies common characteristics and clinical features associated with these deletions. The study also suggests that the size of the deletion has an impact on the phenotype and provides recommendations for clinical surveillance and treatment.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Genetics & Heredity
Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda
Summary: The study reveals common clinical characteristics of terminal and subterminal 6p deletions, including ocular anterior segment dysgenesis, vision problems, brain malformations, congenital heart defects, hearing impairment, eye movement abnormalities, and developmental delay. It also suggests that larger deletions may cause additional features such as complex heart defects, corpus callosum abnormalities, kidney abnormalities, and orofacial clefting. The study emphasizes the importance of collecting information directly from parents and provides recommendations for clinical surveillance.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Genetics & Heredity
Xuan Zhang, Hongjuan Lu, Hanran Yang, Yichen Ji, Huixin Liu, Wenjian Liu, Jiayi Li, Zhixian Yang, Wei Sun
Summary: Structural rearrangements of chromosome 4p result in rare genomic disorders, including Wolf-Hirschhorn syndrome (WHS) and partial 4p trisomy. Two cases were presented, demonstrating the clinical manifestations of different chromosomal imbalances in chromosome 4p. The study highlights the pathogenicity of terminal 4p deletion and provides insights into genotype-phenotype correlations.
FRONTIERS IN GENETICS
(2023)
Review
Clinical Neurology
Yulin Sun, Lin Wan, Huimin Yan, Zhichao Li, Guang Yang
Summary: The NPRL2 gene-related epilepsy encompasses a range of epilepsy syndromes, and our study identified two novel likely pathogenic variants of NPRL2. The mutations were mostly missense and hereditary, suggesting that the type of NPRL2 variants may impact the clinical manifestations and prognosis evaluation of focal epilepsy patients.
FRONTIERS IN NEUROLOGY
(2021)
Article
Food Science & Technology
Anand K. Gavai, Yamine Bouzembrak, Leonieke M. van den Bulk, Ningjing Liu, Lennert F. D. van Overbeeke, Lukas J. van den Heuvel, Hans Mol, Hans J. P. Marvin
Summary: The world market for food supplements is large and faces the threat of illegal compounds. A new approach using machine learning to detect unknown stimulants in food supplements has been presented in this study.
Article
Clinical Neurology
Chujun Wu, Mengwen Wang, Xingao Wang, Wei Li, Shaowu Li, Bin Chen, Songtao Niu, Hongfei Tai, Hua Pan, Zaiqiang Zhang
Summary: This study investigated a cohort of 309 adult patients with suspected genetic leukoencephalopathies (gLEs) and characterized the genetic and phenotypic spectra of gLEs in this population. The most frequently mutated genes were identified.
Review
Medicine, General & Internal
Osamu Machida, Keiko Yamamoto Shimojima, Takashi Shiihara, Satoshi Akamine, Ryutaro Kira, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Satoru Nagata, Toshiyuki Yamamoto
Summary: In this study, we reported 12 patients with developmental delays associated with interstitial microdeletions in the long arm of chromosome 6. The gene responsible for developmental delay was identified as SIM1 through genotype-phenotype correlation analysis.
INTRACTABLE & RARE DISEASES RESEARCH
(2022)
Article
Clinical Neurology
H. Joels, A. Benny, A. Sharpe, B. Postigo, B. Joseph, C. Piantino, A. Marshall, V. Hewertson, C. M. Hill
Summary: This study describes the phenotypic, polysomnographic characteristics, impact, and treatment response in children with sleep related rhythmic movement disorder (SR-RMD). The findings indicate that SR-RMD places a significant burden on child and family wellbeing, and highlight the potential therapeutic response to extended-release melatonin and sensory processing differences in this population.
Article
Genetics & Heredity
Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng
Summary: This study investigates the phenotypic and genotypic features of Chinese WSS patients and evaluates the therapeutic effects of rhGH. The study finds that WSS patients have different clinical and imaging characteristics, with short stature and developmental delay being the most common features. The study also identifies 11 variants of the KMT2A gene, including 8 novel variants.
FRONTIERS IN GENETICS
(2023)
Article
Ophthalmology
Christine Yergeau, Razek G. Coussa, Fares Antaki, Catherine Argyriou, Robert K. Koenekoop, Nancy E. Braverman
Summary: Patients with Zellweger spectrum disorder (ZSD) experience a gradual decline in visual acuity, which is associated with disease severity. Serial electroretinography is not a useful tool for monitoring vision loss progression. Intraretinal schitic changes may be common in ZSD. Multiple systematic measures are necessary to accurately assess retinal dystrophy in ZSD.
Review
Clinical Neurology
Dongling Yang, Jinqiu Wang, Zailong Qin, Juntan Feng, Chengyun Mao, Yuyi Chen, Xuelin Huang, Yiyan Ruan
Summary: This study explores the phenotypic and genotypic spectra of NPRL3-related epilepsy by reporting and assessing cases of NPRL3-related epilepsy. The findings suggest that patients with various NPRL3 variants exhibit variable clinical manifestations. Additionally, it may be important to consider the presence of NPRL3 mutations in epilepsy patients with a family history. This study provides valuable information for the treatment and prognosis by expanding the phenotypic and genotypic spectrum of NPRL3-related epilepsy.
Review
Endocrinology & Metabolism
Shuyun Deng, Lele Hou, Dan Xia, Xiaojuan Li, Xiaofang Peng, Xiaoqin Xiao, Jieming Zhang, Zhe Meng, Lina Zhang, Nengtai Ouyang, Liyang Liang
Summary: This study analyzed Chinese children with aggrecan deficiency and investigated genotype-phenotype correlations, differences between Chinese and Western populations, and the effectiveness of growth hormone therapy. The study identified novel ACAN mutations, observed mild dysmorphic features in Chinese patients, and found that growth-promoting treatment resulted in positive therapeutic outcomes.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Oncology
Takashi Sakuma, Tomohiro Sera, Rika Aoyama, Akinari Sawada, Hiroaki Kasashima, Kana Ogisawa, Haruka Bamba, Masakazu Yashiro
Summary: This study reports two unrelated families with GAPPS, who share the same mutation site. This research contributes to determining the clinical practice guidelines for GAPPS and indicates that out of the 35 families reported, a total of 42 patients have developed gastric adenocarcinoma.
JOURNAL OF GASTROINTESTINAL ONCOLOGY
(2023)
Review
Medicine, General & Internal
Hyunjun Ahn, Sang Yeon Lee, Won Ju Jung, Kye-Ho Lee
Summary: The use of minimally manipulated umbilical cord-mesenchymal stem cells (MM-UC-MSCs) has shown promising results in treating alopecia areata (AA) and related diseases, potentially serving as an effective therapeutic alternative based on preclinical and case studies.
WORLD JOURNAL OF CLINICAL CASES
(2021)
Article
Infectious Diseases
Alyssa R. Golden, James A. Karlowsky, Andrew Walkty, Melanie R. Baxter, Andrew J. Denisuik, Melissa McCracken, Michael R. Mulvey, Heather J. Adam, Denice Bay, George G. Zhanel
Summary: The study demonstrated that genotypic resistance profile inferred from WGS can accurately predict phenotypic resistance for ESBL-producing E. coli, with the highest predictive accuracy observed for ciprofloxacin. However, major error and/or very major error rates were >= 3% for some antibiotics.
JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
(2021)
Article
Biochemistry & Molecular Biology
Juliette Schuurmans, Erwin Birnie, Adelita Ranchor, Kristin M. Abbott, Angela Fenwick, Anneke Lucassen, Marjolein Y. Berger, Marian Verkerk, Irene M. van Langen, Mirjam Plantinga
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Biochemistry & Molecular Biology
Jan S. Voorwinden, Mirjam Plantinga, Margreet Ausems, Nine Knoers, Mary Velthuizen, Erwin Birnie, Anneke M. Lucassen, Adelita Ranchor, Irene M. van Langen
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Health Care Sciences & Services
Pauline Lanting, Evelien Drenth, Ludolf Boven, Amanda van Hoek, Annemiek Hijlkema, Ellen Poot, Gerben van der Vries, Robert Schoevers, Ernst Horwitz, Reinold Gans, Jos Kosterink, Mirjam Plantinga, Irene van Langen, Adelita Ranchor, Cisca Wijmenga, Lude Franke, Bob Wilffert, Rolf Sijmons
JOURNAL OF PERSONALIZED MEDICINE
(2020)
Article
Genetics & Heredity
Erwin Birnie, Juliette Schuurmans, Mirjam Plantinga, Kristin M. Abbott, Angela Fenwick, Anneke Lucassen, Marjolein Y. Berger, Irene M. van Langen, Adelita V. Ranchor
Summary: The study examined the psychological outcomes of couple-based expanded preconception carrier screening (ECS) for 50 autosomal recessive (AR) conditions. Most participants were satisfied with their decision on testing, and overall levels of anxiety and worry were low. Although some individuals reported increased anxiety or worry, the psychological outcomes were deemed acceptable and not a barrier to population-wide implementation.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Mirjam Plantinga, Lauren Zwienenberg, Eva van Dijk, Hanna Breet, Janouk Diphoorn, Julia El Mecky, Katelijne Bouman, Joke Verheij, Erwin Birnie, Adelita Ranchor, Nicole Corsten-Janssen, Irene M. van Langen
Summary: The study found that major congenital anomalies detected on ultrasound have a greater impact on prenatal parental decision-making and anxiety compared to the impact of rapid exome sequencing (rES). Most parents still decided to terminate the pregnancy based on ultrasound anomalies even after accepting the rES test-offer. Further research is needed to explore the impact of rES on reproductive decision-making and experienced anxiety.
PRENATAL DIAGNOSIS
(2022)
Review
Biochemistry & Molecular Biology
Lieke M. van den Heuvel, Nina van den Berg, A. Cecile J. W. Janssens, Erwin Birnie, Lidewij Henneman, Wybo J. Dondorp, Mirjam Plantinga, Irene M. van Langen
Summary: This scoping review examined the potential societal implications of implementing expanded universal carrier screening (EUCS) based on theoretical studies and empirical evidence. The review identified potential positive implications, such as reduction of ethnic stigmatization and increased equity, as well as potential negative implications, including reinforcement of disability-based stigmatization and societal pressure. However, empirical evidence on these implications is lacking. Further research is needed to determine which societal implications are likely to occur.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F. Simoes de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens-Frederikse, Adelita V. Ranchor, Conny M. A. van Ravenswaaij-Arts
Summary: This study collected phenotype data directly from parents of children with a chromosome 6 disorder, and compared it to data from medical files. The data collected from parents was highly consistent and provided more information on clinical characteristics compared to existing literature reports.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Juliette Schuurmans, Mirjam Plantinga, Angela Fenwick, Irene van Langen, Anneke Lucassen
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
J. Voorwinden, E. Birnie, M. Plantinga, M. Ausems, N. Knoers, M. Velthuizen, A. Lucassen, I. van Langen, A. Ranchor
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
M. Plantinga, L. Zwienenberg, E. van Dijk, H. Breet, J. Diphoorn, J. el Mecky, K. Bouman, J. Verheij, A. Ranchor, N. Corsten-Janssen, I. van Langen
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
J. Schuurmans, M. Plantinga, E. Birnie, K. M. Abbott, A. D. Diemers, D. M. Van der Kolk, L. M. Van den Heuvel, M. Y. Berger, M. Verkerk, A. Fenwick, A. V. Ranchor, A. Lucassen, I. M. Van Langen
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
A. Engwerda, S. E. Meijer, P. Bouman, N. F. Simoes de Souza, B. Frentz, B. C. T. Flapper, N. Corsten-Janssen, E. H. Gerkes, M. A. Swertz, M. Plantinga, T. Dijkhuizen, W. S. Kerstjens-Frederikse, C. M. A. van Ravenswaaij-Arts
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Meeting Abstract
Biochemistry & Molecular Biology
J. Schuurmans, M. Plantinga, A. Lucassen, A. Fenwick, K. Abbott, E. Birnie, I. van Langen, A. Ranchor
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
L. M. Van den Heuvel, M. J. Huisinga, Y. M. Hoedemaekers, A. B. Baas, M. Plantinga, L. Henneman, J. P. van Tintelen, E. M. A. Smets, I. Christiaans
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)
Meeting Abstract
Biochemistry & Molecular Biology
J. S. Voorwinden, M. Plantinga, M. Ausems, N. Knoers, M. Velthuizen, E. Birnie, A. M. Lucassen, A. V. Ranchor, I. M. van Langen
EUROPEAN JOURNAL OF HUMAN GENETICS
(2019)