Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?

PAULA SCAGLIA; ANDREA SALA; IGNACIO BERGADÁ,; DEBORA BRASLAVSKY; ANA KESELMAN; ANGELA ESPÍNOLA-CASTRO; SABINA DOMENE; HÉCTOR JASPER; DANIEL CORACH; HORACIO DOMENE

Barcelona

Congreso; European Society for Paediatric Endocrinology (ESPE); 2015

Some IGFALS variants have been reported inmore than one ALS-deficient family raising the question whetherthey originated from a single common ancestor allele (foundereffect) or alternatively, as independent mutational events (hotspot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of fiveconsecutive guanine residues, where both G-duplication anddeletion have been described in several families, we speculate thatthis region could be a hot spot. In contrast, c.(1225COT;1424COT) (p.(L409F;A475V)) variants, both present in the same allele intwo unrelated families, could result from a founder effect.