Arnold Munnich

TL;DR: Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.

TL;DR: Most cases of familial incontinentia pigmenti are due to mutations of this locus and that a new genomic rearrangement accounts for 80% of new mutations, which means that NF-κB activation is defective in IP cells.

TL;DR: It is concluded that homozygous mutations in LPIN2 result in Majeed syndrome, an autosomal recessive, autoinflammatory disorder characterised by chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia, and understanding the aberrant immune response in this condition will shed light on the aetiology of other inflammatory disorders of multifactorial aetsiology.

TL;DR: An autosomal-dominant form of EDA-ID associated with a heterozygous missense mutation at serine 32 of IkappaBalpha is described, which enhances the inhibitory capacity of IkappBalpha by preventing its phosphorylation and degradation, and results in impaired NF-kappaB activation.

TL;DR: The low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR.