Identification of a Novel Splice-Site variant in TACR3 (c.888 + 1G > A) Associated with Asthenozoospermia and Hypogonadotropic Hypogonadism in an Iranian Family
A previously unreported splice-site mutation in TACR3 that likely causes familial infertility by disrupting the neurokinin B/NK3R signaling pathway is identified and extended the mutational landscape of TACR3 and highlight its essential contribution to male reproductive endocrinology.
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
Rare candidate variants in SSX1, CPNE1, and SPTBN5 that may potentially be associated with the molecular basis of oligoasthenoteratozoospermia are identified and support the application of WGS in unresolved male infertility.
Sara Sadeghzadeh, A. Malcher, Razieh Ebrahimi Askari et al.· Journal of Applied Genetics· 0 citations
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
The co-occurrence of variants in AKAP4 and RNF220 may suggest an oligogenic etiology of NOA and contribute to the phenotypic variability associated with AKAP4 variants.
Razieh Ebrahimi Askari, A. Malcher, Fateme Sefid et al.· International Journal of Mol...· 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.
Functional in vitro analysis is a key tool for the molecular verification of intronic variants of uncertain clinical significance and, in conjunction with clinical data, supports the establishment of a definitive molecular diagnosis.
V. Danilchenko, D. Ivanoshchuk, O. Timoshchenko et al.· Vavilovskii zhurnal genetiki...· 0 citations
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