Gene: [17q2/GH1] growth hormone 1 (placenta-specific); pituitary dwarfism I (MIM:262400); pituitary dwarfism IV (Kowarski syndrome; MIM:262650);

MAP

 Loci: GEM:17q111/D17Z1, GEM:17q2/COL1A1.
[1] See GEM:17q111/D17Z1."

CAG

 The MIM have registered 4 main forms of pituitary dwarfism (as phenotypes with independent inheritance): I - MIM:262400, II - MIM:262500 (GEM:05p1/GHR), III - MIM:262600, IV - MIM:262650 and two atypical forms (independent inheritance not proved): MIM:262700, MIM:262710. All of them are autosomal recessive. In addition to them, autosomal dominant (MIM:173100) and X-linked (panhypopituitarism, MIM:312000, GEM:0Xq2/PHP) types are mentioned."

REL

 GEM:17q2/GH2.

REF

 GEN,EVO,LOC,FAG "Barsh GS &: NAR, 11, 3939-3958, 1983
MUT "Binder G &: J Clin Endocrinol Metab, 81, 4047-4050, 1996
MUT "Binder G, Ranke MB: J Clin Endocrinol Metab, 80, 1247-1252, 1995
CLO,SEQ,STR,EVO "Chen EY &: Genomics, 4, 479-497, 1989
MUT,PAT "Cogan JD &: J Clin Endocrinol Metab, 80, 3591-3595, 1995
MUT "Cogan JD &: J Clin Endocrinol Metab, 76, 1224-1228, 1993
LOC,PRO,FAG "Harper ME &: AJHG, 34, 227-234, 1982
MUT "Igarashi Y &: Hum Mol Genet, 2, 1073-1074, 1993
MUT,POG "Mullis PE &: Pediatr Res, 31, 532-534, 1992
SEQ,EVO,LOC,FAG "Owerbach D &: Science, 209, 289-292, 1980
LOC "Spurr NK &: CCG, 37, (HGM7), 591, 1984
MUT "Takahashi Y &: New Engl J Med, 334, 432-436, 1996
MAP,LIN "Tsipouras P &: CCG, 47, 109-110, 1988
MAP,LIN "van Tuinen P &: Genomics, 1, 374-381, 1987
MAP,LIN "Xu WM &: PNAS, 85, N22, 8563-8567, 1988

KEY

 ont, horm

CLA

 coding, basic

LOC

 17 q22-24

MIM

 MIM: 139250

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