Jul 2026· Zeitschrift für Induktive Abstammungs- und Vererbungslehre· Vol 301· 0 citations· 25 references
Medicine
TL;DR
Improved understanding of the genetic basis of the disease can provide improved guidance for genetic counseling and family planning strategies for additional affected families, and enhancing the understanding of genotype-phenotype correlations in NPHP4.
The observed fivefold increase in heterozygosity of p.(Asn614ThrfsTer2) and the presence of homozygosity of p.(Asp165Glu) in cryptorchidism cases contribute to the literature and suggest that DAAM2 variants may play a potential role in the etiology of cryptorchidism.
Onur Yalçın, Çağrı Doğan· Turkish Journal of Medical S...· 0 citations
A novel variant was revealed – tandem duplication of twelve nucleotides (c.1185_1196dup) in exon 10 of the SLC26A4 gene, an in-frame insertion resulting in the inclusion of four additional amino acid residues Gly-Phe-Phe-Ser (p.(Gly396_Ser399dup) in a highly conserved region of the pendrin protein.
M. V. Zytsar, V. Danilchenko, A. Bondar et al.· Vavilovskii zhurnal genetiki...· 0 citations
This study is the first to report and validate the pathogenicity of the RYR1 gene and provide definitive guidance for the lifelong anesthetic management of a 53-year-old male who developed fulminant MH during general anesthesia.
Yong Bai, Da-Bang Lei, Rong-Zhi Luo et al.· Orphanet Journal of Rare Dis...· 0 citations
A novel 5-bp deletion in the C22orf31 gene is reported in a Saudi patient with developmental delays and seizures along with microcephaly, expanding the mutational and clinical spectrum of C22orf31 mutation-related neurodevelopmental disorders in Saudi Arabia.
Md. Safayet Hossain, O. Muthaffar, Angham Abdulrehman Abdulakreem et al.· Journal of Disability Resear...· 0 citations
Findings expand the spectrum of DES and MYH7 variants observed in cardiomyopathy and highlight the need for further segregation and functional analyses to clarify their clinical significance in RCM.
Mahrokh Bagherimoghaddam, Samira Kalayinia, Amir Farjam Fazelifar et al.· Cardiology Research and Prac...· 0 citations
These findings expand the variant spectrum of COL5A2, improving molecular diagnosis of cEDS, and validate the pathogenicity of an unreported COL5A2 intronic variant in a Chinese family with cEDS.
