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A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
Southeast Asian J Trop Med Public Health. 2001 Jun; 32(2):425-8.SA

Abstract

Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome.

Authors+Show Affiliations

Shotelersuk V
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. fmedvst@md2.md.chula.ac.th
Srivuthana S
No affiliation info available
Ittiwut C
No affiliation info available
Theamboonlers A
No affiliation info available
Mahatumarat C
No affiliation info available
Poovorawan Y
No affiliation info available

MeSH

AcrocephalosyndactyliaBase SequenceChild, PreschoolDNA PrimersGenetic CounselingHumansMaleMutationReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 2Receptors, Fibroblast Growth Factor

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11556600

Citation

Shotelersuk, V, et al. "A Case of Pfeiffer Syndrome Type 1 With an A344P Mutation in the FGFR2 Gene." The Southeast Asian Journal of Tropical Medicine and Public Health, vol. 32, no. 2, 2001, pp. 425-8.
Shotelersuk V, Srivuthana S, Ittiwut C, et al. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. Southeast Asian J Trop Med Public Health. 2001;32(2):425-8.
Shotelersuk, V., Srivuthana, S., Ittiwut, C., Theamboonlers, A., Mahatumarat, C., & Poovorawan, Y. (2001). A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. The Southeast Asian Journal of Tropical Medicine and Public Health, 32(2), 425-8.
Shotelersuk V, et al. A Case of Pfeiffer Syndrome Type 1 With an A344P Mutation in the FGFR2 Gene. Southeast Asian J Trop Med Public Health. 2001;32(2):425-8. PubMed PMID: 11556600.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. AU - Shotelersuk,V, AU - Srivuthana,S, AU - Ittiwut,C, AU - Theamboonlers,A, AU - Mahatumarat,C, AU - Poovorawan,Y, PY - 2001/9/15/pubmed PY - 2002/1/10/medline PY - 2001/9/15/entrez SP - 425 EP - 8 JF - The Southeast Asian journal of tropical medicine and public health JO - Southeast Asian J Trop Med Public Health VL - 32 IS - 2 N2 - Pfeiffer syndrome, an autosomal dominant disorder, consists of craniosynostosis, broadening of the thumbs and great toes, and partial soft tissue syndactyly of the hands and feet. Three clinical subtypes have been classified mainly for the purpose of genetic counseling. Mutations in FGFR1 and FGFR2 are known to be associated with the syndrome. However, the correlation between genotype and phenotype is not well defined. Only one patient with Pfeiffer syndrome with no other clinical information has been reported to have had an A344P mutation of the FGFR2. Here we report a Thai male patient with sporadic Pfeiffer syndrome type 1 with impaired intelligence (IQ = 77). Mutation analysis revealed A344P in FGFR2. Identification of the clinical features and molecular defects in more patients is required to better correlate the genotype and phenotype of this complex syndrome. SN - 0125-1562 UR - https://www.unboundmedicine.com/medline/citation/11556600/A_case_of_Pfeiffer_syndrome_type_1_with_an_A344P_mutation_in_the_FGFR2_gene_ L2 - https://www.diseaseinfosearch.org/result/5702 DB - PRIME DP - Unbound Medicine ER -