Aug 2026· Neurogenetics· Vol 27· 0 citations· 22 references
Medicine
TL;DR
This case adds longitudinal clinical, neuroimaging, ophthalmological, and neuropsychological data to the limited literature on patients carrying the p.Arg272His variant, supporting further investigation of genotype–phenotype relationships in ARSACS.
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
The novel NR2F1 variant was classified as likely pathogenic according to ACMG guidelines, confirming the diagnosis of BBSOAS and the ARF3 variant, identified as a secondary finding of uncertain clinical significance, is unlikely to account for the patient's phenotype.
Sina Babaei, Haneieh Honarmand, Mortaza Bonyadi et al.· Molecular Biology Reports· 0 citations
The molecular and phenotypic spectrum of SLC13A3‐related ARLIAK is expanded and the importance of combining sequencing with copy number analysis for accurate diagnosis is underscored, suggesting the need for copy number analysis as part of the diagnostic protocol for suspected ARLIAK cases.
E. Uctepe, Melike Ersoy, F. N. Esen et al.· International Journal of Dev...· 0 citations
Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.
Petra Liskova, L. Dudakova, Karolina Kaminska et al.· HGG advances· 0 citations
The EEFSEC gene encodes eukaryotic elongation factor selenocysteine-tRNA-specific, an essential component of the selenoprotein biosynthesis machinery required for normal neurodevelopment. Biallelic EEFSEC variants have recently been associated with a rare autosomal recessive neurodevelopmental disorder with variable neurological severity. Here, we describe a Turkish proband carrying the recurrent homozygous EEFSEC (NM_021937.5) variant c.1169A>C; p.Asp390Ala, together with his younger brother, who was identified with the same homozygous variant through familial testing. The proband presented with intellectual disability, delayed motor and expressive language development, mild hypotonia, subtle dysmorphic features, and self-limited early childhood febrile seizures. Compared with previously reported Turkish patients carrying the same variant, his absence of ocular motor involvement, normal neuroimaging, lack of persistent epileptiform abnormalities, and partial developmental gains suggest a relatively milder neurological presentation. The younger brother was initially identified before overt neurological manifestations and subsequently showed delayed expressive language development during early follow-up. This report provides comparative data on the recurrent EEFSEC p.Asp390Ala variant and highlights the value of familial testing, early molecular diagnosis, and longitudinal developmental monitoring in families with confirmed biallelic EEFSEC variants.
Kubra Ates, Bülent Kara· American Journal of Medical...· 0 citations
This case provides a detailed clinical and imaging description of CADASIL associated with NOTCH3 c.3313G > T (p.Gly1105Cys) and expands understanding of genotype–phenotype correlations among exon 20 variants and found marked phenotypic heterogeneity across variants and populations.
Xin-Yao Wei, Ling Cui, Li Sun et al.· Neurological Sciences· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
