PMID- 9249867
OWN - NLM
STAT- MEDLINE
DCOM- 19970919
LR  - 20091119
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 17
IP  - 7
DP  - 1997 Jul
TI  - Molecular analysis of the insulin receptor gene for prenatal diagnosis of 
      leprechaunism in two families.
PG  - 657-63
AB  - Leprechaunism is a rare autosomal recessive disorder characterized by marked 
      intrauterine and postnatal growth retardation, severe insulin resistance, and 
      altered glucose homeostasis. This syndrome is related to mutations in the insulin 
      receptor (IR) gene that impair the transmission of the insulin signal by several 
      mechanisms. There is no effective therapy and patients usually die within the 
      first months of life. Here we report the prenatal diagnosis of leprechaunism in 
      two unrelated families in which affected children were compound heterozygotes 
      with two different deficient IR alleles. In family Par-1, the disease IR alleles 
      carried a missense mutation located in exon 18 (Arg1092-->Trp) and exon 20 
      (Glu1179-->Lys). In family Als, a 3-basepair deletion causing the loss of Asn281 
      in exon 3 and a major deletion of exons 10-13 were present in the maternal and 
      paternal mutant IR alleles, respectively. Prenatal diagnosis was made in each 
      family by a specific approach combining denaturing gradient gel electrophoresis 
      (DGGE) and Southern blotting. This methodology allowed us to correctly predict 
      the genotype of the two fetuses at the IR locus.
FAU - Desbois-Mouthon, C
AU  - Desbois-Mouthon C
AD  - Unite INSERM 402, Faculte de Medecine Saint-Antoine, Paris, France.
FAU - Girodon, E
AU  - Girodon E
FAU - Ghanem, N
AU  - Ghanem N
FAU - Caron, M
AU  - Caron M
FAU - Pennerath, A
AU  - Pennerath A
FAU - Conteville, P
AU  - Conteville P
FAU - Magre, J
AU  - Magre J
FAU - Besmond, C
AU  - Besmond C
FAU - Goossens, M
AU  - Goossens M
FAU - Capeau, J
AU  - Capeau J
FAU - Amselem, S
AU  - Amselem S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - EC 2.7.10.1 (Receptor, Insulin)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child, Preschool
MH  - Female
MH  - Genes, Recessive
MH  - Growth Disorders/*genetics
MH  - Humans
MH  - Infant
MH  - Insulin Resistance/*genetics
MH  - Male
MH  - Pedigree
MH  - Predictive Value of Tests
MH  - *Prenatal Diagnosis
MH  - Receptor, Insulin/*genetics
MH  - Syndrome
EDAT- 1997/07/01 00:00
MHDA- 2000/06/20 09:00
CRDT- 1997/07/01 00:00
PHST- 1997/07/01 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/07/01 00:00 [entrez]
AID - 10.1002/(SICI)1097-0223(199707)17:7<657::AID-PD132>3.0.CO;2-8 [pii]
PST - ppublish
SO  - Prenat Diagn. 1997 Jul;17(7):657-63.