Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

Paula A ScagliaAna C KeselmanDébora BraslavskyLucía C MartucciLiliana M KarabatasSabina DomenéMariana L GutiérrezMaría G BalleriniMaría G RopelatoAngela Spinola-CastroAdriana Aparecida Siviero-MiachonJuliana Saito TartuciMaría Sol Rodríguez AzrakRodolfo A ReyHéctor G JasperIgnacio BergadáHoracio Mario Domené

Published in: Clinical endocrinology (2017)

This study confirms previous findings in ACLSD, such as the low IGF-I and a more severe reduction in IGFBP-3 levels, and a gene dosage effect observed in heterozygous carriers (HC). In addition, father-to-son transmission (father compound heterozygous and mother HC), preservation of male fertility, and marginal ALS expression with potential involvement in preserved responsiveness to rhGH treatment, are all novel aspects, not previously reported in this condition.

Keyphrases

early onset
poor prognosis
binding protein
genome wide
replacement therapy
dna methylation
combination therapy
drug induced
smoking cessation