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Molecular Genetics & Genomic Medicine
Scopus
ISSN 2324-9269 · Wiley · 1,928 articles in the index
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Journal Article
Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System
ABSTRACT Background While carrier screening is crucial for preventing birth defects, a significant gap exists between comprehensive screening guidelines and the practical barriers—cost, complexity, and compliance—faced by community healthcare in China. This study evaluates the real‐world…
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Journal Article
Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype—Phenotype Correlations
ABSTRACT Background Hereditary breast and ovarian cancer syndrome (HBOC) is the most common cause of hereditary breast and ovarian cancers in Qatar and worldwide, which is caused by pathogenic variants in the BRCA1 and BRCA2 genes. The aim of this retrospective study is to describe a common…
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Journal Article
Bernard‐Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient
ABSTRACT Background Bernard‐Soulier syndrome (BSS) is a rare bleeding disorder caused by defects in the GPIb‐IX‐V complex, which is essential for platelet adhesion. We report a novel case of BSS in a Mauritanian patient with a history of chronic bleeding since childhood, accompanied by…
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Journal Article
Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients
ABSTRACT Background Coffin‐Siris syndrome (CSS) is a rare, clinically and genetically heterogeneous disorder characterized by coarse facial features, microcephaly, intellectual disability (ID), developmental delay (DD), and hypo/aplastic digital nails and phalanges, typically of the 5th digit. CSS…
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Journal Article
Pharmacogenomic Calling From Whole‐Exome Sequencing in the Taiwanese Population—A Real‐World Experience
ABSTRACT Background Pharmacogenomics (PGx) enables precision medicine by improving efficacy and reducing adverse drug reactions, but implementation is limited by testing burden and ethnic variability. With whole‐exome sequencing (WES) increasingly applied in Taiwan, we evaluated its feasibility for…
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Journal Article
Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High‐Risk Pediatric Populations
ABSTRACT Introduction Fanconi anemia (FA) is the most prevalent inherited disorder leading to bone marrow failure, resulting from a rare autosomal recessive genetic condition that affects all three types of blood cells. A key characteristic of FA is the body's heightened sensitivity to DNA‐damaging…
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Journal Article
Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series
ABSTRACT Background Williams‐Beuren syndrome (WBS; OMIM #194050), caused by 7q11.23 deletions, is well‐characterized postnatally, but prenatal manifestations remain poorly defined. This study aims to delineate the prenatal phenotypes, inheritance patterns, and outcomes of 7q11.23 copy number…
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Journal Article
Association Between Vitamin D Deficiency and the Risk of Diabetic Retinopathy in Patients With Type 2 Diabetes: A Meta‐Analysis
ABSTRACT Background Diabetic retinopathy (DR) is a common microvascular complication of type 2 diabetes mellitus (T2DM) and a leading cause of blindness worldwide. Recent evidence suggests a potential role of vitamin D deficiency in the development of DR. Objective To systematically evaluate the…
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Journal Article
Clinical Features and Treatment Strategies of Li‐Fraumeni Syndrome Patients With Inherited TP53 Mutations
ABSTRACT Background Li‐Fraumeni syndrome is a rare autosomal dominant disorder caused by a pathogenic mutation of the tumor suppressor gene TP53. This disease starts at an early age and has been shown to be associated with multiple tumors. The study aims to discuss the clinical and genetic…
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Journal Article
A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature
ABSTRACT Background SRP72‐associated hereditary bone marrow failure syndrome type 1 (BMFS1) has recently been described and only six families have been reported so far. BMFS1 is an autosomal dominant condition characterized by early‐onset aplastic anemia or pancytopenia in some patients and…
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Journal Article
Multiple Mitochondrial Dysfunction Syndrome Caused by IBA57 Gene Mutation: A Case Report and Literature Review
ABSTRACT Background Pathogenic variants of IBA57 (OMIM ID: 615330) are usually associated with multiple mitochondrial dysfunction syndrome (MMDS) and hereditary spastic paraplegia type 74 (SPG74). Here, we present a novel compound heterozygous IBA57 mutation in a boy with severe global…
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Journal Article
Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome
ABSTRACT Background Kallmann syndrome (KS) is a genetic disorder characterized by impaired reproductive system and olfactory development. This study aimed to identify a novel variant of SEMA3A in a KS patient and explore its potential pathogenic mechanism. Methods A gene panel was used to identify…
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Journal Article
Genotype–Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center
ABSTRACT Background Klinefelter Syndrome (KS) and Turner Syndrome (TS) are the two most common sex chromosome aneuploidies (SCAs). This study aims to investigate genotype–phenotype correlations of SCAs including classic, rare variants, and mosaic cases of KS and TS. Methods To understand the…
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Journal Article
Prenatal Fetal Neurocutaneous Melanosis: A Case Report and Literature Review
ABSTRACT Background Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by congenital melanocytic nevus of the skin with melanocytic deposits in the central nervous system. Patients with neurological symptoms have a poor prognosis and may die within years of symptom onset…
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Journal Article
A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F
ABSTRACT Objective Variants of the proto‐cadherin 15 (PCDH15) gene are related to Usher syndrome type 1F (USH1F). The purpose of this study was to determine the genetic etiology of a USH1F family in China and to perform a minigene assay for the PCDH15 gene to explore the effect of variation on…
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Journal Article
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability
ABSTRACT Introduction Whole‐exome sequencing (WES) is considered an important tool in investigating the etiology of developmental delay/intellectual disability (DD/ID) and epilepsy. Genetic diagnosis with WES has become an important tool in patients with DD/ID and epilepsy. Methods In this study…
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Journal Article
Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins
ABSTRACT Background Pseudohypoaldosteronism type I (PHA1) is a rare genetic disorder characterized by renal or systemic resistance to aldosterone, resulting in hyponatremia, hyperkalemia, and metabolic acidosis. The autosomal recessive systemic form (PHA1B), caused by mutations in SCNN1A, SCNN1B…
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Journal Article
A Novel Alpha1‐Variant (HBA1:c.‐35T>C) Complexed With the First Reported Hb M‐Saskatoon in the Chinese Population
ABSTRACT Background Hemoglobinopathies are genetic disorders characterized by structural or quantitative hemoglobin abnormalities. We report the first documented case globally of a novel alpha1 (α1)‐variant (HBA1:c.‐35T>C) co‐occurring with Hb M‐Saskatoon (HBB:c.190C>T), the latter being identified…
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Journal Article
Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss
ABSTRACT Background DIAPH3 variants are associated with non‐syndromic autosomal dominant auditory neuropathy 1 (AUNA1). To the best of our knowledge, there are no reports of DIAPH3 variants causing sensorineural hearing loss. Here, we present a family with late‐onset sensorineural hearing loss as…
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Journal Article
A Novel A‐Kinase‐Anchoring Protein 9 Variant in Premature Coronary Artery Disease: A Case Series
ABSTRACT Background Familial premature coronary artery disease (CAD) is often associated with genetic variants. This study investigated potential causal variants in a Chinese pedigree with premature CAD. Methods In total, nine family members were included in the study (six CAD patients and three…
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