Acid-labile subunit, deficiency of
OMIM:615961Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | IGFALS |
|---|---|
| Reference transcript | NM_004970.2 |
| DNA Change | c.1291delT |
| A.A. Change | p.Trp431Glyfs*11 |
| Exon/Intron | exon 2 |
| Mutation Type | deletion |
| Reference | Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J, Maes M.A novel homozygous mutation of the IGFALS gene in a female adolescent: indirect evidence for a contributing role of the circulating IGF-I pool in the pubertal growth spurt. Horm Res Paediatr. 2014;81(6):422-7. |