title: Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome.
abstract: Laron syndrome, growth hormone (GH) insensitivity syndrome, caused by a mutation of the GH receptor (GHR) gene, is extremely rare in the Chinese population. We report a Chinese girl diagnosed with Laron syndrome at age 1.9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China. hhuihk@hotmail.com
authors.forename: Hamilton N T
authors.initials: HN
authors.lastname: Hui
authors.forename: Louise A
authors.initials: LA
authors.lastname: Metherell
authors.forename: K L
authors.initials: KL
authors.lastname: Ng
authors.forename: Martin O
authors.initials: MO
authors.lastname: Savage
authors.forename: Cecilia
authors.initials: C
authors.lastname: Camacho-Hübner
authors.forename: Adrian J L
authors.initials: AJ
authors.lastname: Clark
mesh_terms: D019943:Amino Acid Substitution; D000886:Anthropometry; D044466:Asian People; D002352:Carrier Proteins / Q000097:blood; D002675:Child, Preschool; D002681:China; D005260:Female; D006130:Growth Disorders; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018969:Insulin-Like Growth Factor Binding Proteins / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000032:analysis / Q000172:deficiency*; D046150:Laron Syndrome / Q000208:ethnology / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D018969:Insulin-Like Growth Factor Binding Proteins; D011986:Receptors, Somatotropin; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; C051815:somatotropin-binding protein