PMID- 15521982
OWN - NLM
STAT- MEDLINE
DCOM- 20051114
LR  - 20111117
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 66
IP  - 6
DP  - 2004 Dec
TI  - Molecular delineation of deletions on 2q37.3 in three cases with an Albright 
      hereditary osteodystrophy-like phenotype.
PG  - 537-44
AB  - A minority of the reported cases of terminal 2q37 deletion clinically resemble 
      Albright hereditary osteodystrophy (AHO)/pseudopseudohypoparathyroidism and have 
      only mild-to-moderate mental retardation. Our molecular and cytogenetic 
      fluorescence in situ hybridization (FISH) findings on an additional three 
      patients further reduce the size of the minimal critical region deleted in this 
      syndrome to about 3 Mb. This region includes the G-protein-coupled receptor 35 
      (GPR35), glypican 1 (GPC1), and serine/threonine protein kinase 25 (STK25) genes 
      on 2q37.3. We have further defined several polymorphic variants within the coding 
      region and flanking regions of GPR35 gene, which could potentially be useful for 
      rapid detection of GPR35 gene deletion. We postulate that the absence of GPR35 
      may, at least partly, account for the phenotypic resemblance to the AHO. We also 
      believe that the deletion of GPR35 could be responsible for the entity 
      brachydactyly mental retardation syndrome (OMIM #600430), which was coined based 
      on the above minority of patients with terminal 2q37 deletion. We recommend that 
      every patient with AHO phenotype should undergo 2q subtelomeric FISH screen and 
      subsequently a molecular study on the GPR35 gene. GPC1 and/or STK25 
      haploinsufficiency may also contribute to the AHO-like phenotype.
FAU - Shrimpton, A E
AU  - Shrimpton AE
AD  - Department of Pediatrics, SUNY Upstate Medical University, Syracuse, NY, USA.
FAU - Braddock, B R
AU  - Braddock BR
FAU - Thomson, L L
AU  - Thomson LL
FAU - Stein, C K
AU  - Stein CK
FAU - Hoo, J J
AU  - Hoo JJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (GPR35 protein, human)
RN  - 0 (Receptors, G-Protein-Coupled)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
SB  - IM
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Female
MH  - Fibrous Dysplasia, Polyostotic/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Phenotype
MH  - Pseudopseudohypoparathyroidism/*genetics
MH  - Receptor Protein-Tyrosine Kinases/genetics
MH  - Receptors, G-Protein-Coupled/genetics
EDAT- 2004/11/04 09:00
MHDA- 2005/11/15 09:00
CRDT- 2004/11/04 09:00
PHST- 2004/11/04 09:00 [pubmed]
PHST- 2005/11/15 09:00 [medline]
PHST- 2004/11/04 09:00 [entrez]
AID - CGE363 [pii]
AID - 10.1111/j.1399-0004.2004.00363.x [doi]
PST - ppublish
SO  - Clin Genet. 2004 Dec;66(6):537-44. doi: 10.1111/j.1399-0004.2004.00363.x.