Molecular Medicine NPHP4 Variants Are Associated With Pleiotropic Heart Malformations
نویسندگان
چکیده
Vanessa M. French,* Ingrid M.B.H. van de Laar,* Marja W. Wessels, Christan Rohe, Jolien W. Roos-Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies-Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke Verkerk, Sigrid Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koen Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack,† Aida M. Bertoli-Avella†
منابع مشابه
NPHP4 variants are associated with pleiotropic heart malformations.
RATIONALE Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE To identify genetic mutations causing cardiac laterality defects. METHODS AND RESULTS We performed a genome-wide lin...
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Nephronophthisis (NPHP) is an autosomal recessive kidney disease that is often associated with vision and/or brain defects. To date, 11 genes are known to cause NPHP. The gene products, while structurally unrelated, all localize to cilia or centrosomes. Although mouse models of NPHP are available for 9 of the 11 genes, none has been described for nephronophthisis 4 (Nphp4). Here we report a nov...
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Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end-stage renal disease in the first two decades of life. Mutations in three genes (NPHP1, 2, and 3) were identified as causative. Extrarenal manifestations are known, such as retinitis pigmentosa (Senior-Loken syndrome, SLS) and ocular motor apraxia type Cogan. Recently, we identified a novel gene...
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