advertisement
Abstract #59632 Published in IGR 16-3
Identification of A Novel SBF2 Frameshift Mutation in Charcot-Marie-Tooth Disease Type 4B2 Using Whole-exome Sequencing
Chen M; Wu J; Liang N; Tang L; Chen Y; Chen H; Wei W; Wei T; Huang H; Yi X; Qi MGenomics, proteomics & bioinformatics 2014; 12: 221-227
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (OMIM 604563, short for CMT4B2) is a genetically-heterogeneous childhood-onset neuromuscular disorder. Here, we report the case of a 15-year-old male adolescent with lower extremity weakness, gait abnormalities, foot deformities and early-onset glaucoma. Since clinical diagnosis alone was insufficient for providing pathogenetic evidence to indicate that the condition belonged to a consanguineous family, we applied whole-exome sequencing to samples from the patient, his parents and his younger brother, assuming that the patient's condition is transmitted in an autosomal recessive pattern. A frame-shift mutation, c.4571delG (P.Gly1524Glufs∗42), was revealed in the CMT4B2-related gene SBF2 (also known as MTMR13, OMIM 607697), and this mutation was found to be homozygous in the proband and heterozygous in his parents and younger brother. Together with the results of clinical diagnosis, this case was diagnosed as CMT4B2. Our finding further demonstrates the use of whole-exome sequencing in the diagnosis and treatment of rare diseases.
BGI-Shenzhen, Shenzhen, Guangdong518083, China.
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
