Drawing upon a case report of a TS patient with Y chromosome material and a comprehensive literature review, we underscore the paramount significance of employing multiple Y chromosome material detection techniques, timely initiation of puberty, appropriate oestrogen therapy, and holistic multidisciplinary management in addition to gonadectomy for individuals with TS and Y chromosome material.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7. We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13, 426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations. The SMA carrier frequency was found to be (2.8%), and the rs143838139 was found in 491/13426 (3.66%) of individuals.

The effects of obesity and central obesity on serum CRP concentration were smaller among the protein-altering mutation carriers in the CRP (p_interaction = 0.008) and G6PC gene (p_interaction = 0.034) compared to the corresponding non-carriers. As serum CRP and obesity are important predictors of cardiovascular risks in clinics, our observations suggest taking rare genetic factors into consideration might improve the delivery of precision medicine.

ELOVL4-related ichthyosis, spastic quadriplegia and mental retardation (ISQMR) is a rare autosomal recessive disorders characterized by ichthyosis with neurological features. Only five families with ISQMR with biallelic single-nucleotide variants have been described date and no families with copy number variants (CNVs) have been described. We include four new families with ISQMR, including two that carry a biallelic CNV and originate from the same tribe suggesting a tribal founder variant.

The promoter hypermethylation of RARβ2+GSTP1 is associated with breast cancer, older age, and postmenopausal patients. The PMR of both genes showed a specificity of 86.21% and a sensitivity of 31.03%. Our study accounts for the first evidence of the association of promoter hypermethylation of RARB2 and GSTP1 genes in liquid biopsies (circulating cfDNA) and breast cancer in Peruvian women.

The deleterious recurrent frameshift insertion mutation (NM_001379659.1: c.3755dup) in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings with family history of same condition. The data have implications for genetic diagnosis and counseling in families with the same disorders.

Individuals with Schaaf-Yang syndrome manifest symptoms affecting various systems. Disease trajectories, levels of concern, and treatment priorities as perceived by caregivers are illustrated here.

This study aims to identify SCN5A variants and evaluate the genotype-phenotype correlation of Brugada syndrome on 117 Vietnamese probands. Multiple bioinformatic tools were carried out to classify SCN5A variants as benign and disease-causing. In addition, the genotype-phenotype correlation was also revealed.

We describe for the first time the application of droplet digital PCR to identify aberrant methylation in imprinting disorders. As a proof of principle of the diagnostic suitability of the method to detect aberrant epigenetic patterns, we have chosen DNA samples with specific aberrant imprinting patterns. We could show the reliability of the technique by comparing it with two other well established methods (MS-MLPA, MS-pyrosequencing).

We present a detailed phenotypic analysis of six individuals with KAT6B-related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. We report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease. One known and five novel KATB6 pathogenic variants were identified by molecular diagnostics using Next Generation Sequencing (NGS). While most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.

The purpose of this study is to analyze the clinical data and mutations of three new cases, and to summarize the clinical and genetic characteristics of CCHS patients in the Chinese population from our study and previous literature. Our study not only expands the mutation spectrum of PHOX2B, but also improves our understanding of this disease CCHS.

This study presents the clinical phenotype and genetic variant data of a family with craniofacial microsomia. The proband was a neonate with facial abnormalities and a rare feature of airway obstruction. Genetic analyses indicated a heterozygous SF3B2 variant, which was inherited from the father. A Minigene assay revealed that two mRNA products were produced, leading to a premature termination codon.

We conducted a retrospective study of 24 cases in a hospital in eastern China and found variants in several genes. Of note, we found a compound heterozygous mutation in UGDH. One of the mutations in the second exon has not been described previously. We performed a protein analysis of the structure and proposed that the mutated protein may be unstable. Our results add to the growing list of mutations that affect this gene. Since the condition responds poorly to antiepileptic therapy, increased single-gene mutations may aid in more targeted therapy.

We reported a new de novo frameshift mutation in HIST1H1E (NM_005321.2, c.416_419dupAGAA, p.Ala141GlufsTer56) in an individual with Rahman syndrome. we comprehensively curated and summarized 23 variants and the clinical features from 52 patients. Our findings revealed that likely gene-disrupting variants in HIST1H1E contribute to a wide range of neurodevelopmental phenotypes.

The novel heterozygous missense variant of SMAD3 [c.1262G>A, p.(Cys421Tyr)], which was present just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif, was found in this Japanese family instance of Loeys–Dietz syndrome (LDS) type 3. This variant led to reduced phospho-SMAD3 (Ser423/Ser425) levels and transcription activity in vitro; however, a paradoxical upregulation of TGF-ß signaling was evident in the aortic wall. Further research is warranted to clarify the influence of the SMAD3 variant type and location on the LDS3 phenotype as well as the molecular mechanism of TGF-ß paradox in LDS3 aortopathy.

The PI3K/AKT pathway is important in regulating cell metabolism, differentiation, and proliferation, and is studied in cancer. Variants in the PIK3R1 gene have been associated with vascular lesions and Activated PI3K delta syndrome type 2 (APDS2). This case report describes an infant boy with vascular malformations and syndactyly, along with low levels of IgA and IgG, due to a de novo variant in PIK3R1.

A genomic medicine project for underserved individuals in Texas has been launched. Identification of an ATP1A3 variant in an individual that was previously denied exome led to a new treatment that helped stabilize neurologic episodes.

Our study points that the very rare splice acceptor variant EDA c.742-2A>G associates with severe oligodontia and is pathogenic.

This study described a young patient with a primary familial brain calcification harboring a novel homozygous MYORG mutation (c.743delG: p.G248Afs*32), and reviewed all reported cases of PFBC with biallelic MYORG mutations. Our study makes a significant contribution to the literature because it is important to screen for MYORG mutations in patients with primary brain calcification, especially younger patients without a family history.