Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency

被引：11

作者：

Inoue, Hiroshi ^{[1
,2
]}

Mukai, Tokuo ^{[3
]}

Sakamoto, Yukiko ^{[1
]}

Kimura, Chizuko ^{[1
]}

Kangawa, Natsumi ^{[1
]}

Ltakura, Mitsuo ^{[1
]}

Ogata, Tsutomu ^{[4
]}

Ito, Yoshiya ^{[3
]}

Fujieda, Kenji

机构：

[1] Univ Tokushima, Div Genet Informat, Inst Genome Res, Tokushima 7708503, Japan

[2] Univ Tokushima, Diabet Therapeut & Res Ctr, Inst Genome Res, Tokushima 7708503, Japan

[3] Asahikawa Med Univ, Dept Paediat, Asahikawa, Hokkaido, Japan

[4] Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo, Japan

来源：

CLINICAL ENDOCRINOLOGY | 2012年 / 76卷 / 01期

关键词：

TRANSCRIPTION FACTOR; PROLACTIN PROMOTER; GROWTH-HORMONE; CELL-TYPES; PIT-1; DNA; DOMAIN; DOMINANT; BINDING; HOMEODOMAIN;

D O I：

10.1111/j.1365-2265.2011.04165.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Context To date, approximately 35 different POU1F1 mutations have been described in patients with familial and sporadic combined pituitary hormone deficiency (CPHD) from different ethnic backgrounds. The majority are missense mutations clustered within the conserved POU-specific and POU-homeo domains, encoded by exons 4 and 6, respectively.

引用

页码：78 / 87

页数：10

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