A novel AVPR2 missense mutation in a Chinese boy with severe inherited nephrogenic diabetes insipidus.
J Pediatr Endocrinol Metab
; 24(9-10): 807-9, 2011.
Article
em En
| MEDLINE
| ID: mdl-22145481
ABSTRACT
Inherited nephrogenic diabetes insipidus (NDI) is characterized by renal resistance to arginine vasopressin (AVP). The most common cause is mutations in the AVP receptor 2 (AVPR2) gene at Xq28. Severe complications of NDI are rare but can occur after severe dehydration without treatment. A 7-year-old boy presented with short stature and severe intellectual disability other than polyuria and polydipsia. The karyotype was normal. Direct sequencing revealed a novel missense mutation c.506T > C (p.L169P) in AVPR2 in the patient. His mother was heterozygous for the mutation. The mutation was absent in 103 unrelated healthy males and predicted to be consistently pathogenic by several prediction methods, including Polyphen, SIFT, PMut, PhD-SNP, SNPs3D, PANTHER, and MEMPACK. Awareness of the primary signs of NDI, polyuria, and polydipsia would facilitate early diagnosis and treatment to prevent its severe complications. Also, molecular analysis will provide a rapid and definitive diagnosis and facilitate genetic counseling for family planning.
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Base de dados:
MEDLINE
Assunto principal:
Índice de Gravidade de Doença
/
Receptores de Vasopressinas
/
Diabetes Insípido Nefrogênico
/
Mutação de Sentido Incorreto
/
Povo Asiático
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
China