Our study conducted a genetic analysis of a cohort of 69 Chinese RP patients from 36 families. Genetic and phenotypic landscapes of this cohort were performed. Furthermore, three novel variants were identified in this study, and the high frequency variant (NM_001034853.1: c.2236_2237del) of RPGR detected from a big pedigree was discussed in detail, which may offer references for genetic diagnosis of retinitis pigmentosa.

We present a novel finding of a previously unreported c.687 + 1G > T mutation in COL4A3, disrupting transcription and translation, impairing α3, α4, α5 (IV) chain formation. This alters the glomerular basement membrane integrity, causing hereditary Alport syndrome. This discovery enriches the genetic map of Alport syndrome, aiding clinical genetic guidance and enhancing pregnancy testing efficacy.

We report a 4-year-old boy with fucosidosis with novel pathogenic FUCA1 variants and neuroanatomical correlates. Results observed contribute to a better understanding of the genetics and pathophysiology of this rare lysosomal storage disorder.

Whole-exome sequencing of affected members in a family segregating dominant syndromic retinal disease with early onset deafness revealed a novel, ultra-rare, disease-causing variant in TUBB4B (NM_006088:c.1049A>C). The variant substitutes a highly conserved lysine with threonine at amino acid position 350. Protein structure modeling studies suggest that Lys350 is an important residue for β-tubulin function, and detailed ophthalmological analyses demonstrate that the Lys350Thr TUBB4B variant causes progressive cone dystrophy with early onset sensorineural hearing loss.

We report two cases of late-onset Krabbe disease (KD) from a Chinese family. This study broadens the consideration of KD in the diagnosis of patients presenting with muscle weakness and deformities in the lower limbs.

Neonate was found to have X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome, highlighting the utility of advanced genetic testing in directing neonatal care and the complexity of managing multiple genetic diagnoses, while also adding to our understanding of the MECP2-related disorder phenotypes in boys.

This case report presents a 23-year-old man and his younger brother who both carry maternally inherited hemizygous pathogenic missense variant c.419C>T, p.(Ala140Val) of MECP2. While the index patient has a severe syndromic intellectual disorder (ID), his outpatient brother has substantially milder ID predominantly limited to problems in linguistics skills.

The effect of fetal genotype on preeclampsia (PE) is usually missed in the literature. We showed the first evidence for the role of fetal ACVR2A polymorphisms in PE.

The principal symptoms of the proband comprised profound sensorineural hearing loss since childhood, severe visual impairment, congenital cataracts, cone-rod dystrophy, and ataxia. Whole Exome Sequencing (WES) revealed that the proband carried a compound heterozygous variant in the ABHD12 gene: M1, a known nonsense variation c.477G>A (p.Trp159Ter); and M2, a novel copy number variant with a deletion of approximately 18.10 Kbp in chromosome 20p11.21 (seq[GRCh38]del(20)(p11.21)chr20:g. 25302218_25320318del), covering exons 4-12 of the ABHD12 gene. The literature review indicated that there were 65 patients with PHARC from 30 different families. All clinical information of the described patients with PHARC syndrome and all known mutations associated with the disease to date were compiled.

RALA is a small GTPase from the RAS superfamily involved in signal transduction and cytoskeletal dynamics. In this study, we identified two novel de novo missense variants in RALA (c.217G>A p.(Glu73Lys) and c.73G>C p.(Val25Leu)) in patients with developmental delay, epilepsy, and brain abnormalities. These rare variants affect conserved residues within the GTP/GDP-binding site, likely disrupting RALA's GTPase activity, which is crucial for neurodevelopment.

This study reports a 7-year follow-up of a male with CAMRQ4 syndrome caused by a homozygous in-frame deletion (c.1286_1288delAGA) in ATP8A2. Clinical and genetic analyses confirm its pathogenicity, expanding the mutational spectrum of ATP8A2-related CAMRQ and underscoring the importance of comprehensive genetic testing in rare neurological disorders.

In this work, a pathogenic variant screening was performed in a hereditary spastic paraplegia patient by whole-exome sequencing. Two potentially pathogenic ATP13A2 variants were selected and submitted to a segregation analysis with 16 family members, indicating that these variants are pathogenic for spastic paraplegia type 78 when occurring in compound heterozygosity.

Fetuses with talipes equinovarus (TE) is related to chromosome abnormalities, pathogenic or likely pathogenic copy number variants (CNVs) and monogenic diseases. Karyotyping, CMA, and WES could be offered. WES is recommended for both isolated and complex fetal TE.

MiRNAs, distinct from protein-coding genes, play a critical role in the development of premature ovarian insufficiency (POI) by regulating various pathways such as epigenetic modifications, gene expression control, and participation in signaling cascades. This review explores the molecular mechanisms by which miRNAs influence POI pathogenesis and assesses their utility as biomarkers and therapeutic targets, potentially transforming early diagnosis, prognostic evaluations, and treatment approaches.

We report a patient with biallelic cysteinyl-tRNA synthetase (CARS1) variants that presents with hepatopathy, hypothyroidism, short stature, developmental delay, microcephaly muscular hypotonia, brittle hair, and ataxia. Functional studies revealed that the identified variants cause hypomorphic and loss-of-function effects, expanding the allelic and phenotypic heterogeneity of CARS1-associated disease.

Our study highlights that SLC26A4 is the second most prevalent cause of hearing loss, following GJB2. This finding underscores the significance of understanding the genetic underpinnings of hearing loss for early diagnosis and the implementation of appropriate screening programs for different ethnic groups in Iran.

This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD-related neurodevelopmental disorders.

This study introduces a recessive MMP21 mutation unmasked by a rare 10q26.13q26.2 deletion via WES in a Chinese fetus and further refines INSYN2A as a potential candidate gene for cognitive phenotype in 10q26.1-q26.3 region, providing a reference for prenatal diagnosis and genetic counseling in patients with similar conditions.

We established a rapid saliva-based non-invasive screening model for carriers of SMA, hearing loss, and thalassemia among women from South Zhejiang and provided prenatal diagnosis for high-risk families. The results not only clarified the local carrier frequency of these diseases but also confirmed the feasibility of the carrier screening model.

In this study, we used the Gene Expression Omnibus and applied the LASSO and SVM-RFE algorithms to identify differentially expressed genes (DEGs) in patients with metabolic dysfunction-associated steatohepatitis (MASH), aiming to identify diagnostic biomarkers or new therapeutic targets for MASH. The expression of these genes were validated in both in vitro and in vivo liver lipotoxicity models, confirming their alignment with the predictions. Five DEGs (FMO1, PEG10, TP53I3, ME1, and TRHDE) were initially identified by screening MASH and healthy control groups. Among these, ME1 exhibited an AUC exceeding 0.88 in testing and validation datasets, suggesting its potential as a predictive marker for MASH.