1,721,193 research outputs found
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
No full textThe clinical features of loss of ARHGAP4 function remain unclear despite several reports of different patterns of deletions inactivating different functional regions of the protein. The protein encoded by ARHGAP4 is thought to function as a Rho GTPase activating protein. Characterization of the genetic defect causing X‐linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers revealed a novel contiguous deletion of 17,905 bp encompassing the entire AVPR2 gene and extending into intron 7 of the ARHGAP4 gene. Examination of their mother showed that she was a carrier of this deletion. An attempt was made to distinguish the putative clinical signs of an ARHGAP4 deletion from the well‐defined phenotype of X‐linked NDI caused by an AVPR2 gene deletion. By reviewing all characterized deletions encompassing ARHGAP4, we reconsider the potential role of ARHGAP4 in cognition.Lingli Huang, Gemma Poke, Jozef Gecz and Kate Gibso
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
No full textStudies the genetic aspects of X-linked mental retardation (XLMR). Subtypes of XLMR; Presence of RPS6KA3 missense mutation; Kinase activity of the R383 mutant.Karine Merienne; Sylvie Jacquot; Solange Pannetier; Maria Zeniou; Agnes Bankier; Jozef Gecz; Jean-louis Mandel; John Mulley; Paolo Sassone-corsi; André Hanaue
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
No full textOral presentation - Plenary Sessions: PL2.1Erfan Aref-Eshghi ... Marie Shaw, Jozef Gecz ... et al
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
No full textAbstract not availableJohn C. Mulley, Sarah E. Heron, Robyn H. Wallace, Jozef Gecz, and Leanne M. Dibben
Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity
No full textOral Presentation: CONCURRENT SESSIONSC01 NEW GENES IN NDDS -C01.6Alina Kurolap ... Clare van Eyk, Jozef Gecz ... et al
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts
No full textAbstract not availableThuong T. Ha, Lynette G. Sadleir, Simone A. Mandelstam, Sarah J. Paterson, Ingrid E. Scheffer, Jozef Gecz and Mark A. Corbet
Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
No full textAbstract not availableKristin A. Rigbye, Peter M. van Hasselt, Rosemary Burgess, John A. Damiano, Saul A. Mullen, Slavé Petrovski, Ram S. Puranam, Koen L.I. van Gassen, Jozef Gecz, Ingrid E. Scheffer, James O. McNamara, Samuel F. Berkovic, Michael S. Hildebran
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