A Mutational Hot Spot in the Prop-1 Gene in Russian Children with Combined Pituitary Hormone Deficiency

被引：43

作者：

Fofanova O.V. ^{[1
]}

Takamura N. ^{[4
]}

Kinoshita E.-I. ^{[6
]}

Parks J.S. ^{[7
]}

Brown M.R. ^{[7
]}

Peterkova V.A. ^{[1
]}

Evgrafov O.V. ^{[2
]}

Goncharov N.P. ^{[3
]}

Bulatov A.A. ^{[3
]}

Dedov I.I. ^{[3
]}

Yamashita S. ^{[4
,5
,8
]}

机构：

[1] Department of Pediatrics, Endocrinology Research Center, Moscow

[2] Research Center for Medical Genetics, Endocrinology Research Center, Moscow

[3] DNA-Diagnostics Laboratory, Endocrinology Research Center, Moscow

[4] Dept. Intl. Hlth. and Radiat. Res., Atomic Bomb Disease Institute, Nagasaki Univ. School of Medicine, Nagasaki

[5] Department of Nature Medicine, Atomic Bomb Disease Institute, Nagasaki Univ. School of Medicine, Nagasaki

[6] Department of Pediatrics, Nagasaki University, School of Medicine, Nagasaki

[7] Department of Pediatrics, Division of Endocrinology, Emory University School of Medicine, Atlanta, GA

[8] Dept. Intl. Hlth. and Radiat. Res., Nagasaki 852

来源：

Pituitary | 1998年 / 1卷 / 1期

关键词：

2-base pair deletion GA296; Combined pituitary hormone deficiency (CPHD); Prophet of Pit-1 (Prop-1); Russia;

D O I：

10.1023/A:1009918924945

中图分类号：

学科分类号：

摘要：

Combined pituitary hormone deficiency (CPHD), including growth hormone (GH), prolactin (Pr1) and thyroid-stimulating hormone (TSH) in children is now considered a heterogeneous syndrome. Recent findings on expression of mouse pituitary-specific homeodomain factors demonstrate dependence of adenopituitary ontogeny on interactive expression of these factors, suggesting their involvement in etiology of CPHD. Prophet of Pit-1 (Prop-1) gene, a novel pituitary-specific homeodomain factor, was analyzed in 14 Russian children with CPHD, in whom Pit-1 gene was intact. We found a mutational hot spot in three patients from two families in homeodomain part of the second exon of Prop-1 gene. The common 2- base pair deletion (GA296) in the homozygous state resulted in a Serine to Stop codon (S109X) substitution and generated a truncated Prop-1 protein. Parents were phenotypically normal and heterozygous for GA296 deletion, indicating an autosomal recessive inheritance. These results demonstrate a novel type of Prop-1 gene mutation as one of the causes of CPHD in Russian patients.

引用

页码：45 / 49

页数：4

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