Expansion of the allelic and phenotypic spectrum of MED25-related developmental disorder: novel compound heterozygous variants with structural domain implications
The allelic and phenotypic spectrum of MED25-related developmental disorder is broadened and the need for comprehensive evaluation across molecular, structural, and phenotypic pathways to elucidate variant signature in rare genetic disease models correctly is highlighted.
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 proband, despite carrying a truncating variant, presented without classic digital anomalies or ocular involvement, underscoring that even loss-of-function alleles can produce atypical CSS4 phenotypes.
Xiu-Ling Chen, J. Dumbuya, Jing Qi· Frontiers in Genetics· 0 citations
The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.
Camilla Meossi, Alessandro De Falco, Deianira Rinaldi et al.· Journal of Neurology· 0 citations
The phenotypic spectrum of SOX4-related disorders is expanded to include nystagmus for the first time, and one patient presenting with severe hypospadias and cryptorchidism is Documented, providing new evidence to facilitate clinical recognition and genetic counseling.
H. Miao, Ting Zhang, Ke-Xin Fang et al.· Genes· 0 citations
A female child with fetal growth restriction, axial hypotonia, global developmental delay, delayed motor acquisition, and characteristic craniofacial dysmorphisms is reported, highlighting the importance of early diagnosis, longitudinal follow-up, and multidisciplinary intervention in rare neurodevelopmental disorders.
C. Azevedo, Lucinda Delgado, Maria Lopes Almeida et al.· International Journal of Con...· 0 citations
Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this conditio...
M. Ganapathi, Sean D. Fraser, Joseph Ryu et al.· HGG advances· 0 citations
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