Edition of 09 July 2021

A new study recently published in the American Journal of Human Genetics identified 23 individuals with homozygous or compound heterozygous JAG2 variants in 13 families. The form of muscular dystrophy described in this article is associated with variants in JAG2 that are highly conserved across species and that predict protein loss of function on the basis of correlations with prior structural work for the encoded protein Jagged2. A spectrum of disease severity is associated with specific genotypes.

A new paper published in Genetics in Medicine identified eight individuals heterozygous and mostly de novo variants in FOXP4 causing a neurodevelopmental disorder. The disorder shows variable expressivity: a broad spectrum of associated features is present in a subset of individuals and includes short stature, macrocephaly, congenital diaphragmatic hernia, vertebral abnormalities, ptosis, and cryptorchidism.

A new study recently published in the Journal of Medical Genetics identified a likely pathogenic c.350T>C transition in APOO predicting an I117T substitution in MIC26. APOO encodes MIC26, a component of MICOS (the mitochondrial contact site and organising system). This article described a family with an X- linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. The mutation caused impaired processing of the protein during import and faulty insertion into the inner mitochondrial membrane.