Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.
Hum Genome Var
; 11(1): 27, 2024 Jul 26.
Article
de En
| MEDLINE
| ID: mdl-39060265
ABSTRACT
Biallelic IGFALS variants lead to acidâlabile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370delinsT) associated with parental consanguinity. He showed short stature consistent with ALS deficiency. This case expands the mutation spectrum of IGFALS to include the elimination of only one N-glycosylation motif of ALS.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Langue:
En
Journal:
Hum Genome Var
Année:
2024
Type de document:
Article
Pays d'affiliation:
Japon
Pays de publication:
Royaume-Uni