Article
Endocrinology & Metabolism
Huahong Wu, Yang Li, Hui Li
Summary: This study analyzed the prevalence of BDA3 in children with short stature and its effect on GH therapy. The results showed that BDA3 is more common in the short stature group, with a predominance in females. BDA3 occurrence is independent of the GH pathway and does not affect the therapeutic effect of GH on short stature children.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec-Wilk, Artur Dobosz, Marta Kotlarek-Lysakowska, Anna Kubiak-Dydo, Ewelina Uzarowska-Gaska, Julia Starega-Roslan, Pawel Gaj, Izabela Gorzynska, Katarzyna Serwan, Michal Swierniak, Adam Kot, Krystian Jazdzewski, Anna Wojcicka
Summary: Brachydactylies are a group of inherited conditions characterized by shortened fingers and toes, with different subtypes caused by mutations in genes such as BMPR1B, BMP2, or GDF5. This study identified a family with two members affected by brachydactyly type A2, showing that the mutation in the BMPR1B gene occurred de novo in the proband and was transmitted to his son. Despite both patients having the same variant, their phenotypes differed with more severe manifestation in the adult.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Oncology
Julien L. P. Morival, Halida P. Widyastuti, Cecilia H. H. Nguyen, Michael Zaragoza, Timothy L. Downing
Summary: The study found family-specific DMRs in fibroblasts caused by LMNA mutations associated with dilated cardiomyopathy (DCM), linked to genes related to laminopathy phenotypes. Inter-family epimutation hotspots near differentially expressed genes found outside LADs redistributed in LMNA-related DCM were identified. Comparison of DMRs in fibroblasts and iPSCs revealed persistent epimutations across both cell types.
CLINICAL EPIGENETICS
(2021)
Article
Pediatrics
Nenad Koruga, Silvija Puseljic, Visnja Tomac, Anamarija Soldo Koruga, Igor Marjanac, Borna Biljan, Kresimir Santic, Ivana Lenz, Nora Puseljic
Summary: This article presents a case report of a 15-year-old boy with Saul Wilson syndrome (SWS). Genetic examination identified a pathogenic variant in the COG4 gene. Magnetic resonance imaging revealed the need for surgical treatment to relieve critical neurological compression. However, there was no significant improvement after the surgery.
Article
Genetics & Heredity
Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian, Akio Koizumi
Summary: This study identified a novel pathogenic variant in a Japanese family with BDA1 and assessed its significance using three-dimensional analysis methods, expanding the genetic spectrum of BDA1.
BMC MEDICAL GENOMICS
(2021)
Article
Pediatrics
Jiaqi Shao, Yue Liu, Shuyang Zhao, Weisheng Sun, Jie Zhan, Lihua Cao
Summary: In this study, a five-generation Chinese family with brachydactyly with or without syndactyly was reported. A novel heterozygous frameshift variant in the ROR2 gene was identified through genetic analysis. This study expands the gene variant spectrum of brachydactyly and provides important information for genetic counseling of family members.
Review
Genetics & Heredity
Eva-Cristiana Gavril, Irina Nuca, Monica-Cristina Panzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu
Summary: 2q37DS is a common subtelomeric deletion disorder with variable clinical manifestations, including facial dysmorphism, developmental delay/intellectual disability, brachydactyly type E, short stature, obesity, hypotonia, and abnormal behavior with autism spectrum disorder. The exact relationship between genotype and phenotype is still unclear.
Article
Endocrinology & Metabolism
Harleen Kaur, Inusha Panigrahi
Summary: Chung-Jansen Syndrome is a recently identified obesity syndrome characterized by global developmental delay, intellectual disability, obesity and dysmorphism. A case study showed a child with the syndrome also had hypothyroidism and small kidneys on one side, with a nonsense variant in the PHIP gene identified through next generation sequencing.
OBESITY RESEARCH & CLINICAL PRACTICE
(2021)
Article
Genetics & Heredity
Svenja Alter, Andreas David Zimmer, Misun Park, Jianli Gong, Almuth Caliebe, Regina Folster-Holst, Antonio Torrelo, Isabel Colmenero, Susan F. Steinberg, Judith Fischer
Summary: The similar clinical features of two unrelated patients were caused by different de novo mutations in the PRKD1 gene, one being a gain-of-function mutation and the other a loss-of-function mutation. This study expands the clinical spectrum of PRKD1 mutations.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Genetics & Heredity
Feier Zeng, Huan Liu, Xuyang Xia, Yang Shu, Wei Cheng, Heng Xu, Geng Yin, Qibing Xie
Summary: This study identified novel variants in IHH for inherited BDA1 and found a potential causal germline variant in Cry1 for a molecular biomarker of RA.
FRONTIERS IN GENETICS
(2022)
Review
Genetics & Heredity
Sanam Faryal, Muhammad Farooq, Uzma Abdullah, Zafar Ali, Saadia Maryam Saadi, Farid Ullah, Kamal Khan, Yasra Sarwar, Muhammad Sher, Anuja Arora Chopra, Niels Tommerup, Shahid M. Baig
Summary: Mutations in the GDF5 gene can cause various types of skeletal dysplasia, with homozygous mutations leading to more severe phenotypes and heterozygous mutations having milder effects. In an extended Pakistani family, a frameshift mutation in the GDF5 gene has been passed down over six generations, confirming the involvement of GTC and BDC in the GDF5 mutational spectrum.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Medicine, General & Internal
Sahar Noor, Nasrin Hakimzada, Nijatullah Safi, Sultan Mahmood Alikozai, Abdul Jamil Rasooli, Tooryalai Jalalzai, Qais Siddiqui, Ahmad Jalil Sestani, Najla Nasir, Sarah Noor, Ahmed Maseh Haidary, Saifullah Khalid
Summary: A teenage Afghan girl presented with seizure, and further investigations revealed elevated serum parathormone, high phosphate levels and low serum calcium, indicating a possible diagnosis of Albright hereditary osteodystrophy (AHO) which is often delayed in third-world countries due to limited medical and diagnostic services.
CLINICAL CASE REPORTS
(2023)
Review
Genetics & Heredity
Christina Dailey, Rashedat B. Oshodi, Christina Boull, Anjali Aggarwal
Summary: Pathogenic variants in the SOX18 gene are associated with two syndromes, hypotrichosis-lymphedema-telangiectasia-renal defects syndrome and hypotrichosis-lymphedema-telangiectasia syndrome. We reported a case of a 15-year-old female patient with a likely de novo SOX18 pathogenic variant, who exhibited both common and novel clinical features including musculoskeletal abnormalities and poor wound healing.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Elena F. Boer, Hannah F. Van Hollebeke, Emily T. Maclary, Carson Holt, Mark Yandell, Michael D. Shapiro
Summary: Research on craniofacial morphogenesis in pigeons has identified a Z chromosome locus linked to beak morphology variation, with an amino acid substitution in the ROR2 gene potentially regulating beak length. Comparative genomic analyses suggest significant differentiation in related loci between breeds with different beak lengths. The non-canonical Wnt pathway plays a critical role in vertebrate neural crest cell migration and craniofacial morphogenesis.
Article
Genetics & Heredity
Wei Zhou, Luan Chen, Hao Wu, Ting Wang, Gang Ma, Baocheng Wang, Cong Wang, Na Zhang, Yingtian Zhang, Lin He, Shengying Qin, Xiaofang Sun, Hai Zhang, Lu Shen
Summary: This study investigated the role of miRNAs in BDA1 through miRNA profiling, identifying miR-135a-1-3p as a key player in the pathogenesis of BDA1. Dual-luciferase reporter gene experiment revealed Hoxd10 as a potential target gene of miR-135a-1-3p. Pathway analysis showed that the targets of miRNAs were closely related to Runx1/2, Notch, and collagen-related pathways.
Article
Genetics & Heredity
Mona Aglan, Khalda Amr, Samira Ismail, Adel Ashour, Ghada A. Otaify, Mennat Allah I. Mehrez, Eman H. A. Aboul-Ezz, Mona El-Ruby, Inas Mazen, Mohamed S. Abdel-Hamid, Samia A. Temtamy
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2015)
Article
Biochemistry & Molecular Biology
Jose A. Caparros-Martin, Alessandro De Luca, Francois Cartault, Mona Aglan, Samia Temtamy, Ghada A. Otaify, Mennat Mehrez, Maria Valencia, Laura Vazquez, Jean-Luc Alessandri, Julian Nevado, Inmaculada Rueda-Arenas, Karen E. Heath, Maria Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Victor L. Ruiz-Perez
HUMAN MOLECULAR GENETICS
(2015)
Article
Genetics & Heredity
Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al-Gazali, Xin Wang, Rasim Ozgur Rosti, Esra Dikoglu, Antoinette Bernabe Gelot, Basak Rosti, Keith K. Vaux, Eric M. Scott, Jennifer L. Silhavy, Jana Schroth, Brett Copeland, Ashleigh E. Schaffer, Philip L. S. M. Gordts, Jeffrey D. Esko, Matthew D. Buschman, Seth J. Field, Gennaro Napolitano, Ghada M. Abdel-Salam, R. Koksal Ozgul, Mahmut Samil Sagiroglu, Matloob Azam, Samira Ismail, Mona Aglan, Laila Selim, Iman G. Mahmoud, Sawsan Abdel-Hadi, Amera El Badawy, Abdelrahim A. Sadek, Faezeh Mojahedi, Hulya Kayserili, Amira Masri, Laila Bastaki, Samia Temtamy, Ulrich Mueller, Isabelle Desguerre, Jean-Laurent Casanova, Ali Dursun, Murat Gunel, Stacey B. Gabriel, Pascale de Lonlay, Joseph G. Gleeson
Article
Endocrinology & Metabolism
G. A. Otaify, M. S. Aglan, M. M. Ibrahim, M. Elnashar, R. A. S. El Banna, S. A. Temtamy
OSTEOPOROSIS INTERNATIONAL
(2016)
Article
Biotechnology & Applied Microbiology
Alaaeldin Fayez, Mona Aglan, Nora Esmaiel, Taher El Zanaty, Mohamed Abdel Kader, Mona El Ruby
BIOMED RESEARCH INTERNATIONAL
(2015)
Article
Genetics & Heredity
Maria Valencia, Jose A. Caparros-Martin, Maria Salome Sirerol-Piquer, Jose Manuel Garcia-Verdugo, Victor Martinez-Glez, Pablo Lapunzina, Samia Temtamy, Mona Aglan, Allan M. Lund, Peter G. J. Nikkels, Victor L. Ruiz-Perez, Elsebet Ostergaard
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2014)
Article
Genetics & Heredity
Periklis Makrythanasis, Mari Nelis, Federico A. Santoni, Michel Guipponi, Anne Vannier, Frederique Bena, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, Andre Megarbane, Amira Masri, Mona S. Aglan, Maha S. Zaki, Armand Bottani, Siv Fokstuen, Lorraine Gwanmesia, Konstantinos Aliferis, Mariana Bustamante Eduardo, Georgios Stamoulis, Stavroula Psoni, Sofia Kitsiou-Tzeli, Helen Fryssira, Emmanouil Kanavakis, Nasir Al-Allawi, Abdelaziz Sefiani, Sana' Al Hait, Siham C. Elalaoui, Nadine Jalkh, Lihadh Al-Gazali, Fatma Al-Jasmi, Habiba Chaabouni Bouhamed, Ebtesam Abdalla, David N. Cooper, Hanan Hamamy, Stylianos E. Antonarakis
Article
Genetics & Heredity
Periklis Makrythanasis, Samia Temtamy, Mona S. Aglan, Ghada A. Otaify, Hanan Hamamy, Stylianos E. Antonarakis
Article
Cell Biology
Roberta Besio, Nadia Garibaldi, Laura Leoni, Lina Cipolla, Simone Sabbioneda, Marco Biggiogera, Monica Mottes, Mona Aglan, Ghada A. Otaify, Samia A. Temtamy, Antonio Rossi, Antonella Forlino
DISEASE MODELS & MECHANISMS
(2019)
Article
Cell & Tissue Engineering
Erika Kague, Francesco Turci, Elis Newman, Yushi Yang, Kate Robson Brown, Mona S. Aglan, Ghada A. Otaify, Samia A. Temtamy, Victor L. Ruiz-Perez, Stephen Cross, C. Patrick Royall, P. Eckhard Witten, Chrissy L. Hammond
Summary: Back pain is a common condition with high social impact, largely attributed to intervertebral disc disease (IVDD). The role of bone mineral density (BMD) in IVDD remains controversial, with genetic components potentially influencing the disease. Using an aging zebrafish model, it was found that increased BMD in aging can lead to changes resembling osteoporosis, and mutations in sp7 and cathepsin K affecting BMD levels also impacted the development of IVDD.
Article
Genetics & Heredity
Manal M. Thomas, Engy A. Ashaat, Ghada A. Otaify, Samira Ismail, Mona L. Essawi, Mohamed S. Abdel-Hamid, Heba A. Hassan, Sonia A. Alsaiedi, Mona Aglan, Mona O. El Ruby, Samia Temtamy
Summary: Desbuquois dysplasia type 1 (DBQD1) is a rare skeletal dysplasia characterized by growth retardation, short stature, distinct hand features, and a typical radiological appearance at the proximal femur. Two unrelated Egyptian patients with DBQD1 were reported, each with different gene mutations but sharing radiological features. Phenotypic variability and variable expressivity of DBQD were observed, emphasizing the need for further molecular studies for phenotype-genotype correlations and expanding the phenotypic spectrum of the disorder.
MOLECULAR SYNDROMOLOGY
(2021)