Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome

Journal of Human Genetics

Volumn 58, Issue 12, 2013, Pages 819-821

  Siddiqi, Saima ^a   Siddiq, Saadat ^b   Mansoor, Atika ^a   Oostrik, Jaap ^c,d,e   Ahmad, Nafees ^a   Kazmi, Syed Ali Raza ^a   Kremer, Hannie ^c,d,e,f   Qamar, Raheel ^g,h   Schraders, Margit ^c,d,e  

^a INSTITUTE OF BIOMEDICAL AND GENETIC ENGINEERING IBGE   (Pakistan)

^b National Institute for Handicapped   (Pakistan)

^c Head and Neck Surgery ^*  (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g COMSATS Institute of Information Technology ^*  (Pakistan)

^h ISRA UNIVERSITY   (Pakistan)

Author keywords

BCS1L; Bj rnstad's syndrome; Pilitorti; Sensorineural hearing loss

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BCS1L GENE; BJOERNSTAD SYNDROME; EXON; GENE; GENE MUTATION; GENOTYPE; HAIR GROWTH; HOMOZYGOSITY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; ELECTRON TRANSPORT COMPLEX III; FEMALE; GENOTYPE; HAIR DISEASES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; MUTATION; PAKISTAN; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84890892406     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.101     Document Type: Article

References (4)

1. Bjørnstad, R. Pilitorti and sensory-neural loss of hearing. Proc. Fenno-Scand. Ass. Derm. 3-12 (1965).
2. Lubianca, N. J. F., Lu, L., Eavey, R. D., Flores, M. A., Caldera, R. M., Sangwatanaroj, S. et al. The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am. J. Hum. Genet. 62, 1107-1112 (1998).
3. Hinson, J. T., Fantin, V. R., Schonberger, J., Breivik, N., Siem, G., McDonough, B. et al. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N. Engl. J. Med. 356, 809-819 (2007).
4. Venselaar, H., Te Beek, T. A., Kuipers, R. K., Hekkelman, M. L. & Vriend, G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics. 11, 548 (2010).