Related Experiment Video
Updated: Aug 17, 2026
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Retinoblastoma and hypochondroplasia: a case report of two germline mutations arising simultaneously
Tony Tsai1, Dan Gombos, Lilia Fulton
1Ocular Oncology Division, Department of Ophthalmology, University of California-San Francisco, UCSF Medical Center, 10 Koret Way, San Francisco, CA 94143, U.S.A.
Purpose:
To report a rare case of a patient with two germline mutations arising de novo resulting in bilateral retinoblastoma and hypochondroplasia.
Design:
A brief review about retinoblastoma and hypochondroplasia; a case report with genetic mutational analysis results.
Case Report:
We report a patient manifesting the clinical features of both bilateral retinoblastoma and hypochondroplasia. Genetic analysis revealed two germline mutations, a seven base-pair deletion in exon 12 (G70313-703129del) in one allele of the retinoblastoma gene (RB1) and the N540K (C1620C > A) mutation in one allele of the fibroblast growth factor 3 (FGFR3) gene, a frequent mutation in hypochondroplasia. Neither parent has a personal or family history of cancer or ocular tumors. Only the patient's mother is short in stature, and her genetic analysis revealed no FGFR3 mutations.
Conclusions:
Although the probability of both germline mutations occurring in a single individual is exceedingly low, the etiology and mechanism are unknown in this patient. To the best of our knowledge, this is the first report of two clinically distinct heritable germline mutations arising de novo in an individual.
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