title: Two brothers with a 7.0 kb gene deletion associated with isolated growth hormone deficiency type 1A.
abstract: Familial growth hormone deficiency type 1A is an autosomal recessive disease, caused by various homogenous deletions of both alleles of growth hormone gene 1 (hGH1). The hGH1 gene deletion is an event occurring between the 5' and the 3' flanking regions by unequal recombination, which causes a deletion in the hGH1 gene, mostly of 6.7 kb and rarely 7.6 or 7.0 kb in size. Two brothers diagnosed with GH deficiency syndrome were sent to our hospital for further evaluation. DNA samples of the probands and controls were amplified by PCR; restriction endonuclease analysis was done with Sma I enzyme and the patterns were evaluated. Gel electrophoresis results showed that the two brothers had a 7.0 kb deletion. These are the third and fourth cases reported with a 7.0 kb deletion. Both patients responded well to replacement therapy and did not develop antibodies against rGH. No other relatives presented with macro deletions in the hGH1 gene.
authors.affiliation: Dokuz Eylül University, Medical Faculty, Medical Biology Department, Izmir, Turkey.
authors.forename: O H
authors.initials: OH
authors.lastname: Sercan
authors.forename: K S
authors.initials: KS
authors.lastname: Korkmaz
authors.forename: M V
authors.initials: MV
authors.lastname: Yazicioğlu
authors.forename: M
authors.initials: M
authors.lastname: Sakizli
authors.forename: A
authors.initials: A
authors.lastname: Büyükgebiz
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D004587:Electrophoresis, Agar Gel; D017353:Gene Deletion; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction
chemical_list: D019382:Human Growth Hormone; D004247:DNA; C025651:CCCGGG-specific type II deoxyribonucleases; D015252:Deoxyribonucleases, Type II Site-Specific