PMID- 10084571
OWN - NLM
STAT- MEDLINE
DCOM- 19990413
LR  - 20181201
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 84
IP  - 3
DP  - 1999 Mar
TI  - Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone
      receptor gene.
PG  - 917-23
AB  - Isolated growth hormone (GH) deficiency (IGHD) is a rare cause of short stature. 
      The same mutation of the gene encoding the growth hormone-releasing hormone
      receptor (GHRHR) has been identified as the basis for IGHD in three families from
      the Indian subcontinent. The prevalence and heterogeneity of defects in the GHRHR
      gene are not known. Twenty-two dwarf members of a large, extended kindred
      containing at least 105 affected members with autosomal recessive short stature
      underwent extensive endocrine evaluation, which confirmed markedly reduced or
      undetectable serum concentrations of GH that did not increase in response to
      different stimuli. DNA sequences of the 13 exons and intron-exon boundaries of
      the GHRHR gene were determined in an index patient. A novel homozygous 5' splice 
      site mutation (G-->A at position +1) in IVS1 was found. Thirty of the affected
      subjects tested were homozygous for this mutation, and 64 clinically unaffected
      patients were either heterozygous for the mutation (n = 41, including 9 obligate 
      carriers) or homozygous for the wild-type sequence (n = 23). We describe a novel 
      mutation in the GHRHR gene as cause of dwarfism in the largest kindred with
      familial IGHD described to date.
FAU - Salvatori, R
AU  - Salvatori R
AD  - Department of Medicine, The Johns Hopkins University School of Medicine,
      Baltimore, Maryland 21287, USA. salvator@jhmi.edu
FAU - Hayashida, C Y
AU  - Hayashida CY
FAU - Aguiar-Oliveira, M H
AU  - Aguiar-Oliveira MH
FAU - Phillips, J A 3rd
AU  - Phillips JA 3rd
FAU - Souza, A H
AU  - Souza AH
FAU - Gondo, R G
AU  - Gondo RG
FAU - Toledo, S P
AU  - Toledo SP
FAU - Conceicao, M M
AU  - Conceicao MM
FAU - Prince, M
AU  - Prince M
FAU - Maheshwari, H G
AU  - Maheshwari HG
FAU - Baumann, G
AU  - Baumann G
FAU - Levine, M A
AU  - Levine MA
LA  - eng
GR  - 5 M01RR00052/RR/NCRR NIH HHS/United States
GR  - DK34281/DK/NIDDK NIH HHS/United States
GR  - DK35592/DK/NIDDK NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Hormones)
RN  - 0 (Receptors, Neuropeptide)
RN  - 0 (Receptors, Pituitary Hormone-Regulating Hormone)
RN  - F8L0ODC9D7 (somatotropin releasing hormone receptor)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Dwarfism/blood/*genetics
MH  - Female
MH  - Haplotypes
MH  - Hormones/blood
MH  - Humans
MH  - Male
MH  - Mutation/*physiology
MH  - Pedigree
MH  - Receptors, Neuropeptide/*genetics
MH  - Receptors, Pituitary Hormone-Regulating Hormone/*genetics
EDAT- 1999/03/20 03:13
MHDA- 2001/03/28 10:01
CRDT- 1999/03/20 03:13
PHST- 1999/03/20 03:13 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1999/03/20 03:13 [entrez]
AID - 10.1210/jcem.84.3.5599 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1999 Mar;84(3):917-23. doi: 10.1210/jcem.84.3.5599.