Deletion Testing of the Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).

Hypomyelinating leukodystrophies are a heterogeneous group of disorders characterized by abnormal myelin formation in the central nervous system. Thanks to the increased use of NGS, a growing number of pathogenic single nucleotide variants in have recently been reported to be responsible for hypomyelinating leukodystrophy 18 (HLD18), a rare and severe autosomal recessive form. is a small gene (4 exons and 17 kb) encoding 4-dihydroceramide desaturase, which catalyzes the final step in ceramide biosynthesis.

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations. The syndrome is caused by haploinsufficiency of the NSD1 gene, with no evidence of genetic heterogeneity to date.