Article
Genetics & Heredity
Francesca Mattioli, Lina Worpenberg, Cai-Tao Li, Nazia Ibrahim, Shagufta Naz, Saima Sharif, Saghar G. Firouzabadi, Shohreh Vosoogh, Radoslava Saraeva-Lamri, Laure Raymond, Carlos Trujillo, Nicolas Guex, Stylianos E. Antonarakis, Muhammad Ansar, Hossein Darvish, Ru-Juan Liu, Jean-Yves Roignant, Alexandre Reymond
Summary: By combining exome sequencing and functional characterization, we identified NSUN6 as a new neurodevelopmental disorder gene, with its mutations leading to intellectual disability.
GENETICS IN MEDICINE
(2023)
Review
Genetics & Heredity
Muhammad Ikram Ullah
Summary: Oculocutaneous albinism is an autosomal recessive genetic disorder characterized by a lack of melanin pigment in the skin, hair, and eyes. In the Pakistani population, this condition is common and has been associated with consanguineous marriages. Various genetic mutations have been identified in different types of albinism in Pakistani families.
Review
Pediatrics
Mohsen Elalfy, Khadiga Eltonbary, Omar Elalfy, Mohsen Gadallah, Ashraf Zidan, Hesham Abdel-Hady
Summary: This review highlights the association of intracranial hemorrhage in infancy with potentially preventable vitamin K deficiency, with late-onset vitamin K deficiency being the main risk factor. Prophylactic measures such as administering vitamin K to mothers or supplementing exclusively breastfed infants with vitamin K may have an impact on prevention and outcome.
Article
Multidisciplinary Sciences
Serdal Gungor, Yavuz Oktay, Semra Hiz, Alvaro Aranguren-Ibanez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Ozgor, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Topf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Summary: The study identified a homozygous mutation in TUBGCP2 in two siblings from a consanguineous Turkish family, causing disruption of the interaction between GCP2 and GCP3. These findings link the gamma-tubulin complex to the development of the central nervous system in humans through functional and proteomic studies.
Article
Clinical Neurology
Hai-Lin Dong, Yin Ma, Hao Yu, Qiao Wei, Jia-Qi Li, Gong-Lu Liu, Hong-Fu Li, Lei Chen, Dian-Fu Chen, Ge Bai, Zhi-Ying Wu
Summary: This study identified an autosomal recessive sensory neuronopathy linked to pathogenic variants in the COX20 gene, which plays a vital role in mitochondrial complex IV assembly and is highly expressed in proprioceptive sensory neurons. Loss of COX20 contributes to mitochondrial bioenergetic dysfunction as a mechanism in peripheral sensory neuron disease.
Article
Genetics & Heredity
Morad Khayat, Nada Danial-Farran, Elena Chervinsky, Yoav Zehavi, Lilach Peled-Peretz, Chen Gafni-Amsalem, Shadia Hakrosh, Olfat Abu-Leil Zouabi, Liron Tamir, Efrat Mamlouk, Joel Zlotogora, Stavit A. Shalev
Summary: Due to the prevalence of consanguineous/endogamous marriages in the Israeli Arab population, isolated communities with relatively frequent autosomal recessive conditions have emerged. A study in a village in northern Israel found a diverse range of pathogenic autosomal recessive variants among descendants of the founders, highlighting the importance of delineating risk conditions in specific communities for preventive measures and genetic counseling.
Article
Medicine, General & Internal
Pavlina Plevova, Jana Indrakova, Judy Savige, Petra Kuhnova, Petra Tvrda, Dita Cerna, Sarka Hilscherova, Monika Kudrejova, Daniela Polendova, Radka Jaklova, Martina Langova, Helena Jahnova, Jana Lastuvkova, Jiri Dusek, Josef Gut, Marketa Vlckova, Pavla Solarova, Gabriela Kreckova, Eva Kantorova, Jana Soukalova, Rastislav Slavkovsky, Jana Zapletalova, Tomas Tichy, Dana Thomasova
Summary: This study found two gene variants in the Romani population that contribute to the high prevalence of kidney failure. These variants are involved in Alport syndrome, a common genetic kidney disease characterized by hematuria, proteinuria, end-stage kidney failure, hearing loss, and eye anomalies. These findings have important implications for the prevention and treatment of kidney diseases in the Romani population.
FRONTIERS IN MEDICINE
(2023)
Article
Clinical Neurology
Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Zia Ur Rehman, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif
Summary: This study conducted a genetic analysis on two consanguineous Pakistani families and identified two novel mutations in the NSUN2 gene, which may be associated with intellectual disability. Molecular dynamic simulations were used to explore the impact of the NSUN2 missense variant on its function.
FRONTIERS IN NEUROLOGY
(2023)
Article
Hematology
Elisabeth Andersen, Maria Eugenia Chollet, Marit Sletten, Benedicte Stavik, Ellen Skarpen, Paul Hoff Backe, Bernd Thiede, Heidi Glosli, Carola Elisabeth Henriksson, Nina Iversen
Summary: This study investigated the genetic basis of three probands with factor VII deficiency, identifying two different causative mutations. The mutations led to severely reduced FVII activity in all probands, with one patient developing a FVII inhibitor due to complete absence of circulating FVII. Structural analysis suggested protein destabilization and misfolding as potential mechanisms for the observed effects on FVII function.
THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Genetics & Heredity
Qingyang Xiao, Volker M. Lauschke
Summary: This study analyzed the genetic variability of genes associated with autosomal recessive disorders across seven ethnogeographic groups, revealing population-specific disease prevalence differences and founder mutations. The research provides valuable insights into epidemiology, complexity, and population-specific effects of autosomal recessive diseases, serving as a useful resource for informing genetic screening programs for clinical geneticists.
NPJ GENOMIC MEDICINE
(2021)
Article
Immunology
Christopher J. A. Duncan, Morten K. Skouboe, Sophie Howarth, Anne K. Hollensen, Rui Chen, Malene L. Borresen, Benjamin J. Thompson, Jarmila Stremenova Spegarova, Catherine F. Hatton, Frederik F. Staeger, Mette K. Andersen, John Whittaker, Soren R. Paludan, Sofie E. Jorgensen, Martin K. Thomsen, Jacob G. Mikkelsen, Carsten Heilmann, Daniela Buhas, Nina F. Obro, Jakob T. Bay, Hanne Marquart, M. Teresa de la Morena, Joseph A. Klejka, Matthew Hirschfeld, Line Borgwardt, Isabel Forss, Tania Masmas, Anja Poulsen, Francisco Noya, Guy Rouleau, Torben Hansen, Sirui Zhou, Anders Albrechtsen, Reza Alizadehfar, Eric J. Allenspach, Sophie Hambleton, Trine H. Mogensen
Summary: This study investigated five children from Greenland, Canada, and Alaska who carried a homozygous IFNAR2 gene variant, resulting in increased vulnerability to viral infections. This finding highlights the essential role of Type I interferons in viral immunity and suggests the need for further population screening studies.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Editorial Material
Hematology
Daniel J. Hampshire
Summary: Among rare bleeding disorders, factor VII deficiency is the most common, but it is challenging to correlate deficiency with bleeding phenotype. In their study, Lou and colleagues investigate a large cohort of unrelated factor VII deficient patients, providing further perspective on the link between genotype and phenotype in this disorder.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Immunology
Esra Yucel, Ibrahim Serhat Karakus, Ana Krolo, Ayca Kiykim, Raul Jimenez Heredia, Zeynep Tamay, Funda Erol Cipe, Elif Karakoc-Aydiner, Ahmet Ozen, Serap Karaman, Kaan Boztug, Safa Baris
Summary: A new form of congenital neutropenia caused by mutations in the SMARCD2 gene was described in a patient who had various infections since infancy. The patient, carrying a novel homozygous mutation in SMARCD2, underwent hematopoietic stem cell transplantation at 10 years of age and showed successful recovery. Compared to previously reported cases, this patient exhibited distinctive myeloid features and longer survival before transplantation without blastic transformation.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Immunology
Shaghayegh Khanmohammadi, Nima Rezaei, Mehdi Khazaei, Afshin Shirkani
Summary: This study reported a patient with severe COVID-19 who had a mutation in IFNAR1, indicating that patients with IFNAR1 deficiency are prone to severe forms of COVID-19. Furthermore, the study suggests that IFN-gamma therapy may be a potential drug to treat patients with defects in IFN-alpha/beta signaling pathways, but further investigations are needed.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Review
Microbiology
Olivier Paccoud, Nicolas Vignier, Mohammed Boui, Melanie Migaud, Pierre Vironneau, Romain Kania, Frederic Mechai, Sophie Brun, Alexandre Alanio, Arnault Tauziede-Espariat, Homa Adle-Biassette, Elise Ouedraogo, Jacinta Bustamante, Olivier Bouchaud, Jean-Laurent Casanova, Anne Puel, Fanny Lanternier
Summary: Phaeohyphomycoses are a group of fungal infections caused by dematiaceous fungi and primarily occur in immunodeficient patients. This study reports a case of invasive rhinosinusitis caused by Alternaria infectoria in a previously healthy woman with CARD9 deficiency. In addition, 17 other cases of phaeohyphomycosis associated with CARD9 deficiency were reviewed.