Publication: Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
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Putoux, A., Nampoothiri, S., Laurent, N., Cormier-Daire, V., Beales, P. L., Schinzel, A., Bartholdi, D., Alby, C., Thomas, S., Elkhartoufi, N., Ichkou, A., Litzler, J., Munnich, A., Encha-Razavi, F., Kannan, R., Faivre, L., Boddaert, N., Rauch, A., Vekemans, M., & Attié-Bitach, T. (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11), 713–720. https://doi.org/10.1136/jmedgenet-2012-101016
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BACKGROUND: Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in KIF7, a key component of the Sonic hedgehog pathway, as being responsible for this syndrome. METHODS: We sequenced KIF7 in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies. RESULTS: Seven mutations were identified
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- Putoux, Audrey
- Nampoothiri, Sheela
- Laurent, Nicole
- Cormier-Daire, Valérie
- Beales, Philip L
- Bartholdi, Deborah
- Alby, Caroline
- Thomas, Sophie
- Elkhartoufi, Nadia
- Ichkou, Amale
- Litzler, Julie
- Munnich, Arnold
- Encha-Razavi, Férechté
- Kannan, Rajesh
- Faivre, Laurence
- Boddaert, Nathalie
- Rauch, Anita
- Vekemans, Michel
- Attié-Bitach, Tania
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Putoux, A., Nampoothiri, S., Laurent, N., Cormier-Daire, V., Beales, P. L., Schinzel, A., Bartholdi, D., Alby, C., Thomas, S., Elkhartoufi, N., Ichkou, A., Litzler, J., Munnich, A., Encha-Razavi, F., Kannan, R., Faivre, L., Boddaert, N., Rauch, A., Vekemans, M., & Attié-Bitach, T. (2012). Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of Medical Genetics, 49(11), 713–720. https://doi.org/10.1136/jmedgenet-2012-101016
