A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome

Luis F Escobar; Megan Tucker; Michael Bamshad

doi:10.1002/ajmg.a.37676

A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome

Am J Med Genet A. 2016 Jul;170(7):1908-11. doi: 10.1002/ajmg.a.37676. Epub 2016 May 3.

Authors

Luis F Escobar¹, Megan Tucker¹, Michael Bamshad²

Affiliations

¹ Medical Genetics and Neurodevelopmental Pediatrics Center, Payton Manning Children's Hospital, St. Vincent Hospital, Indianapolis, Indiana.
² Center for Clinical and Translational Research, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.

PMID: 27139183
DOI: 10.1002/ajmg.a.37676

Abstract

Here we describe the second reported family with the CATSHL syndrome, a condition resulting from a unique mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Our family confirms the consistent and unique phenotype of this condition, and the specificity of the mutation in FGFR3. The CATSHL syndrome appears to be an autosomal dominant disorder with full penetrance. © 2016 Wiley Periodicals, Inc.

Keywords: CATSHL; FGFR3; camptodactyly; hearing loss; tall stature.

MeSH terms

Adolescent
Amino Acid Sequence / genetics
Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / physiopathology
Female
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / physiopathology
Hearing Loss / genetics*
Hearing Loss / physiopathology
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / physiopathology
Humans
Male
Mutation
Pedigree
Penetrance
Phenotype
Receptor, Fibroblast Growth Factor, Type 3 / genetics*

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

CATSHL syndrome