Explanipedia

Correction: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches Open

Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly , et al. · 2025

Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt Open

Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek Mansour, Ali Farag El Hadad, A. M. Shokry , et al. · 2025

Background Giant axonal neuropathy (GAN) is a rare inherited neurodegenerative disease that affects the peripheral and central nervous systems. Herein, we describe three Egyptian siblings with GAN who showed differences in clinical severit…

<i>Situs Inversus</i> in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia‐Otocephaly Complex Open

Jorge Román Corona‐Rivera, Rocío Carolina Cortés‐Pastrana, Natalia Navia‐Espinoza, Alexandra María Claro‐Marín, Antonia E. Martinez‐Torres , et al. · 2025

There have been three previously reported cases of hypomandibular faciocranial syndrome (HFS), which is characterized by dysgnathia (an absent or hypoplastic mandible), a protruding lower face, microstomia, normally positioned ears, and cr…

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders Open

Heonjong Han, Go Hun Seo, Seong‐In Hyun, Kisang Kwon, Seung Woo Ryu , et al. · 2025

We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studie…

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program Open

Rin Khang, Hane Lee, Jihye Kim, Dongseok Moon, Seokhui Jang , et al. · 2025

Affecting fewer than 20,000 people as defined in South Korea, rare diseases pose significant diagnostic challenges due to their diverse manifestations and genetic heterogeneity. Genome sequencing (GS) offers a promising solution by enablin…

A novel homozygous stop-gain variant in LRRC32 causing cleft palate, proliferative retinopathy, and developmental delay Open

Sameeta Kumari, Fizza Akbar, Seung Woo Ryu, Arshalooz Jamila Rahman, Salman Kirmani · 2025

The LRRC32 gene encodes GARP, a cell surface receptor that regulates the activation of TGF-β. This regulation of TGF-β helps in various cellular processes, including immune regulation and tissue development. In this case report, we describ…

ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches Open

Mert Karakaya, Iman Ragab, Vera Riehmer, Florian Erger, Nihal Hussien Aly , et al. · 2024

Primary intraosseous vascular malformation (VMPI, #606893) is an ultra-rare disorder caused by biallelic pathogenic variants in ELMO2 . To date, only six families with pathogenic ELMO2 variants causing a VMPI phenotype have been described.…

Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management Open

Marcela Vela‐Amieva, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐del Angel, Liliana Fernández‐Hernández, Miriam E. Reyna‐Fabián , et al. · 2024

Biochemical phenotyping has been the milestone for diagnosing and managing patients affected by inborn errors of intermediary metabolism (IEiM); however, identifying the genotype responsible for these monogenic disorders greatly contribute…

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia Open

Tess Holling, Ibrahim M. Abdelrazek, Ghada M. Elhady, Marwa Abd Elmaksoud, Seung Woo Ryu , et al. · 2024

High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients Open

Seung Woo Ryu, Won Chan Jeong, Geu‐Ru Hong, Jung Sun Cho, Soo Yong Lee , et al. · 2024

Background The alpha-protein kinase 3 ( ALPK3 ) gene (OMIM: 617608) is associated with autosomal recessive familial hypertrophic cardiomyopathy-27 (CMH27, OMIM: 618052). Recently, several studies have shown that monoallelic premature termi…

ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review Open

Dalida El Khatib, Moussa Hojeij, Sandra Sabbagh, Cybel Mehawej, Éliane Chouery , et al. · 2024

Background Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal polymicrogyria (BFPP) has been associated with pathogenic variants in the ADGRG1 gene, formerly kn…

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype Open

André Mégarbané, Cybel Mehawej, Daniel Mahfoud, Éliane Chouery, Koenraad Devriendt , et al. · 2024

Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinoph…

Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing Open

Sonya Watson, Kathie J. Ngo, Hannah A. Stevens, Darice Y. Wong, Jihye Kim , et al. · 2024

These findings underscore the importance and value of clinical ES as a diagnostic tool for neurogenetic disease and highlight key barriers that prevent patients from receiving important clinical information with potential treatment and psy…

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family Open

Seung Woo Ryu, Ji‐Hee Yoon, Dongwook Kim, Beomman Han, Heonjong Han , et al. · 2024

Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 …

Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures Open

Gordana Kovačević, Ružica Kravljanac, Biljana Vučetić Tadić, Slavica Ostojić, Seung Woo Ryu · 2023

Schinzel-Giedion syndrome (SGS) is a rare genetic syndrome characterized by severe developmental delay, facial dysmorphism, seizures, and multiple congenital malformations. Affected children have increased risk of developing neuroepithelia…

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families Open

Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman , et al. · 2023

Introduction: Epilepsy is a group of neurological disorders characterized by recurring seizures and fits. The Epilepsy genes can be classified into four distinct groups, based on involvement of these genes in different pathways leading to …

Supplemental Figures and Tables from Cardiolipins Are Biomarkers of Mitochondria-Rich Thyroid Oncocytic Tumors Open