Publications by authors named "I M Herman"
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.
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- FLVCR1 is a protein involved in transporting essential compounds like heme and choline, with mutations linked to serious developmental disorders and neurodegenerative conditions in humans.
- Researchers identified 30 patients with biallelic FLVCR1 variants who displayed severe developmental issues, including brain malformations and other complications, paralleling symptoms seen in mouse models and conditions like Diamond-Blackfan anemia (DBA).
- The findings emphasize that FLVCR1 variants could cause a wide range of health problems, underscoring the need for diverse genetic testing and consideration of animal model data in understanding human genetic disorders.
Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.
Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.