PMID- 12752577
OWN - NLM
STAT- MEDLINE
DCOM- 20031224
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 63
IP  - 5
DP  - 2003 May
TI  - Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct 
      genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.
PG  - 423-6
AB  - Costello syndrome (CS) is a rare, multiple congenital anomaly syndrome with 
      characteristic dysmorphic features, cardiac anomalies and a tendency to develop 
      certain cancers. Phenotypically there is some overlap with other genetic 
      disorders, notably cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome 
      (NS), suggesting that these syndromes may be allelic. We recently identified 
      PTPN11, which encodes the non-receptor protein tyrosine phosphatase, SHP-2, as a 
      major NS disease gene. In this report, we screened a cohort of 27 patients, with 
      the clinical diagnosis of CS, for PTPN11 mutations using denaturing high 
      performance liquid chromatography analysis. No mutations of the PTPN11 gene were 
      found in the CS patients. Common polymorphisms in introns 6 and 7 and exon 8 were 
      identified in four individuals. With our previous exclusion of PTPN11 mutations 
      in CFC syndrome, these data suggest distinct genetic etiologies for Noonan, CFC 
      and Costello syndromes.
FAU - Tartaglia, M
AU  - Tartaglia M
AD  - Department of Pediatrics, Mount Sinai School of Medicine, New York, New York, 
      USA.
FAU - Cotter, P D
AU  - Cotter PD
FAU - Zampino, G
AU  - Zampino G
FAU - Gelb, B D
AU  - Gelb BD
FAU - Rauen, K A
AU  - Rauen KA
LA  - eng
GR  - R01 HL71207/HL/NHLBI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - EC 3.1.3.48 (PTPN11 protein, human)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
RN  - EC 3.1.3.48 (Protein Tyrosine Phosphatases)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Alleles
MH  - Chromatography, High Pressure Liquid
MH  - Cohort Studies
MH  - Exons
MH  - Growth Disorders/genetics
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Intracellular Signaling Peptides and Proteins
MH  - Introns
MH  - Karyotyping
MH  - *Mutation
MH  - Noonan Syndrome/genetics
MH  - Phenotype
MH  - Polymorphism, Genetic
MH  - Protein Tyrosine Phosphatase, Non-Receptor Type 11
MH  - Protein Tyrosine Phosphatases/*genetics
MH  - Skin Abnormalities/genetics
MH  - Syndrome
EDAT- 2003/05/20 05:00
MHDA- 2003/12/25 05:00
CRDT- 2003/05/20 05:00
PHST- 2003/05/20 05:00 [pubmed]
PHST- 2003/12/25 05:00 [medline]
PHST- 2003/05/20 05:00 [entrez]
AID - 076 [pii]
AID - 10.1034/j.1399-0004.2003.00076.x [doi]
PST - ppublish
SO  - Clin Genet. 2003 May;63(5):423-6. doi: 10.1034/j.1399-0004.2003.00076.x.