Heterozygous mutation in the WSXWS equivalent motif of the growth hormone receptor in a child with poor response to growth hormone therapy
MT Tauber, V Porra, F Dastot, C Molinas… - Growth Hormone & IGF …, 1998 - Elsevier
Besides complete GH insensitivity syndrome (GHIS) described by Laron, clinical and
molecular evidences have accumulated concerning partial GHIS. We studied GH receptor
(GHR) gene in children who show poor response to GH treatment and detected a patient
with a heterozygous mutation in exon 7 leading to the Y222H substitution. This missense
mutation, located in the YGEFS motif of the GHR equivalent to the WSXWS motif highly
conserved throughout all members of the cytokine receptor family, has not been described …
molecular evidences have accumulated concerning partial GHIS. We studied GH receptor
(GHR) gene in children who show poor response to GH treatment and detected a patient
with a heterozygous mutation in exon 7 leading to the Y222H substitution. This missense
mutation, located in the YGEFS motif of the GHR equivalent to the WSXWS motif highly
conserved throughout all members of the cytokine receptor family, has not been described …
