A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c…
Tag: Medical genetics
Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheri…
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant
Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characte…
In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
Adrenoleukodystrophy (ALD), an X-linked leukodystrophy caused by pathogenic variants in ABCD1, exhibits a broad range of phenotypes from chi…
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis
Ciliopathies are rare genetic diseases marked by considerable phenotypic heterogeneity and overlap. Among the key mechanisms of cilium biology, its…
BCL11B-related disease: a single phenotypic entity?
Craniosynostosis (CRS), the premature fusion of sutures between the skull bones, is characterised by a long “tail” of rare genetic diagnoses. T…
Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency
Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 …