PMID- 10633130
OWN - NLM
STAT- MEDLINE
DCOM- 20000218
LR  - 20190503
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 37
IP  - 1
DP  - 2000 Jan
TI  - Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
PG  - 26-32
AB  - The Antley-Bixler syndrome has been thought to be caused by an autosomal
      recessive gene. However, patients with this phenotype have been reported with a
      new dominant mutation at the FGFR2 locus as well as in the offspring of mothers
      taking the antifungal agent fluconazole during early pregnancy. In addition to
      the craniosynostosis and joint ankylosis which are the clinical hallmarks of the 
      condition, many patients, especially females, have genital abnormalities. We now 
      report abnormalities of steroid biogenesis in seven of 16 patients with an
      Antley-Bixler phenotype. Additionally, we identify FGFR2 mutations in seven of
      these 16 patients, including one patient with abnormal steroidogenesis. These
      findings, suggesting that some cases of Antley-Bixler syndrome are the outcome of
      two distinct genetic events, allow a hypothesis to be formulated under which we
      may explain all the differing and seemingly contradictory circumstances in which 
      the Antley-Bixler phenotype has been recognised.
FAU - Reardon, W
AU  - Reardon W
AD  - Department of Clinical Genetics, Institute of Child Health, 30 Guilford Street,
      London WC1N 1EH, UK.
FAU - Smith, A
AU  - Smith A
FAU - Honour, J W
AU  - Honour JW
FAU - Hindmarsh, P
AU  - Hindmarsh P
FAU - Das, D
AU  - Das D
FAU - Rumsby, G
AU  - Rumsby G
FAU - Nelson, I
AU  - Nelson I
FAU - Malcolm, S
AU  - Malcolm S
FAU - Ades, L
AU  - Ades L
FAU - Sillence, D
AU  - Sillence D
FAU - Kumar, D
AU  - Kumar D
FAU - DeLozier-Blanchet, C
AU  - DeLozier-Blanchet C
FAU - McKee, S
AU  - McKee S
FAU - Kelly, T
AU  - Kelly T
FAU - McKeehan, W L
AU  - McKeehan WL
FAU - Baraitser, M
AU  - Baraitser M
FAU - Winter, R M
AU  - Winter RM
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Receptors, Fibroblast Growth Factor)
RN  - 8VZV102JFY (Fluconazole)
RN  - EC 2.7.10.1 (FGFR2 protein, human)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
SB  - IM
MH  - Abnormalities, Drug-Induced/genetics
MH  - Abnormalities, Multiple/*genetics
MH  - Ankle Joint/abnormalities
MH  - Ankylosis/genetics
MH  - Craniosynostoses/*genetics
MH  - Eye Abnormalities/genetics
MH  - Female
MH  - Fluconazole/adverse effects
MH  - Genitalia, Female/*abnormalities
MH  - Humans
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - Prenatal Exposure Delayed Effects
MH  - Receptor Protein-Tyrosine Kinases/*genetics
MH  - Receptor, Fibroblast Growth Factor, Type 2
MH  - Receptors, Fibroblast Growth Factor/*genetics
MH  - Sex Characteristics
MH  - Syndrome
PMC - PMC1734444
EDAT- 2000/01/14 09:00
MHDA- 2000/02/26 09:00
CRDT- 2000/01/14 09:00
PHST- 2000/01/14 09:00 [pubmed]
PHST- 2000/02/26 09:00 [medline]
PHST- 2000/01/14 09:00 [entrez]
AID - 10.1136/jmg.37.1.26 [doi]
PST - ppublish
SO  - J Med Genet. 2000 Jan;37(1):26-32. doi: 10.1136/jmg.37.1.26.