A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers

X-linked nephrogenic diabetes insipidus (NDI, OMIM#304800) is caused by mutations in the arginine vasopressin (AVP, OMIM*192340) receptor type 2 ( AVPR2, OMIM*300538 ) gene. A 20-month-old boy and his 8-year-old brother presented with polyuria, polydipsia, and failure to thrive. Both boys demonstrat...

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Veröffentlicht in:	European journal of pediatrics 2016-05, Vol.175 (5), p.727-733
Hauptverfasser:	Schernthaner-Reiter, Marie Helene, Adams, David, Trivellin, Giampaolo, Ramnitz, Mary Scott, Raygada, Margarita, Golas, Gretchen, Faucz, Fabio R., Nilsson, Ola, Nella, Aikaterini A., Dileepan, Kavitha, Lodish, Maya, Lee, Paul, Tifft, Cynthia, Markello, Thomas, Gahl, William, Stratakis, Constantine A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aquaporins Authorship Child Diabetes Diabetes Insipidus, Nephrogenic - genetics Diabetes Insipidus, Nephrogenic - metabolism DNA Mutational Analysis Endocrinology Failure to thrive Genomes Humans Hypernatremia Infant Kinases Male Medicin och hälsovetenskap Medicine Medicine & Public Health Mutation Pediatrics Pedigree Polyuria Receptors, Vasopressin - genetics Receptors, Vasopressin - metabolism RNA Splice Sites - genetics Short Communication Siblings
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