Abstract Search

ey0020.3-13 | Translational Highlights | ESPEYB20

3.13. Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome

JC Lui , J Wagner , E Zhou , L Dong , KM Barnes , YH Jee , J Baron

In Brief: These authors identify a frameshift truncating variant in the gene SPIN4 (Spindlin member 4) in a patient with skeletal overgrowth, hepatosplenomegaly and macrocephaly. Using state-of-the-art mouse models and histone peptide arrays, they delineate the underlying pathogenic mechanism and show that SPIN4 positively regulates Wnt signalling by functioning as an epigenetic reader.Commentary: Generalized overgrowth disorders are ch...

ey0020.4-3 | Sexuality, Fertility and Fertility Optimization in DSD | ESPEYB20

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

K Xia , F Wang , X Lai , L Dong , P Luo , S Zhang , C Yang , H Chen , Y Ma , W Huang , W Ou , Y Li , X Feng , B Yang , C Liu , Z Lei , X Tu , Q Ke , FF Mao , C Deng , AP Xiang

Brief summary: In this in vivo study, Xia et al. demonstrate that AAV-mediated gene therapy recovers testosterone levels, restarts sexual development, restores spermatogenesis, and produces fertile offspring in a mouse model of Leydig cell failure (LCF).A null mutation in the gene encoding luteinizing hormone/choriogonadotrophin receptor (Lhcgr) causes a hereditary LCF in mice which is characterized by a reduction in testosterone levels...

ESPE Yearbook of Paediatric Endocrinology

3.13. Loss-of-function variant in SPIN4 causes an X-linked overgrowth syndrome

4.3. AAV-mediated gene therapy produces fertile offspring in the Lhcgr-deficient mouse model of Leydig cell failure

BiosciAbstracts