This first report of a Chinese patient with INPP5K-related muscular dystrophy broadens both the genetic and clinical spectrum of the disorder and identifies the first disease-causing synonymous variant and a novel hypomorphic missense variant, the combination of which explains the attenuated phenotype lacking intellectual disability.
The molecular and functional spectrum of SLC25A4-associated disease is expanded and may inform clinical practice, including genetic interventions such as preimplantation genetic diagnosis, premarital genetic screening, targeted genetic counseling, and cascade testing of at-risk family members.
Mazhor Aldosary, Hanan Alqudairy, Nourah Alshalan et al.· International Journal of Mol...· 0 citations
The first genetically confirmed Iranian patient, an 18‐month‐old boy presenting with profound developmental delay, axial hypotonia, limb hypertonia, dystonia, oculogyric crises, ptosis, and autonomic dysfunction is reported, expanding the mutational spectrum of SLC18A2‐related disease and highlighting the importance of...
Ali Nikkhah, R. Badv, S. Habibi et al.· Case Reports in Neurological...· 0 citations
ABCA13 encodes ATP-binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare ABCA13 variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmen...
M. Atanasoska, L. Balabanski, D. Avdjieva-Tzavella et al.· Clinical Genetics· 0 citations
The findings describe the overlapping phenotypes of SPG11-related autosomal recessive juvenile ALS and ARHSP, suggesting that these disorders show a clear overlapping phenotype with common genetic defects, and it is challenging to distinguish between these two disorders.
Riaz Ahmad, Muhammad Naeem, H. Houlden· Molecular Biology Reports· 0 citations
The dystrophin reading-frame rule remains valid in this comparative case report, which also emphasises the importance of accurate molecular diagnosis for prognosis, genetic counselling, and treatment stratification in the era of precision medicine.
Geerthana Balasubramaniam, Guhan Ramamurthy· International Journal of Res...· 0 citations
The broad clinical spectrum associated with the SEPTIN9 R106W mutation in a Chinese pedigree spanning from childhood to adulthood is delineated, highlighting the critical role of active inter vention in childhood-onset HNA.
Jing Chen, Shuang Chen, Xin-Yi Zhu et al.· Frontiers in Genetics· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
