A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.

Edna F RocheAnne McGowanOlympia KoulouriMarc-Olivier TurgeonAdeline K NicholasEmmeline HeffernanRanna El-KhairiNoina AbidGreta LyonsDavid HalsallMarco BonomiLuca PersaniMehul T DattaniMark GurnellDaniel J BernardNadia Schoenmakers

Published in: Clinical endocrinology (2018)

As observed with other IGSF1 mutations, p.L773P results in variably penetrant IGSF1 deficiency syndrome. Our observations emphasize the need for multi-generation genetic ascertainment in affected families, especially where TSH-based CH screening programmes may fail to detect CeCH at birth.

Keyphrases

case report
replacement therapy
genome wide
early onset
room temperature
gene expression
dna methylation
gestational age