Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
Arch. endocrinol. metab. (Online)
;
63(3): 250-257, May-June 2019. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1011159
ABSTRACT
ABSTRACT Objective To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. Subjects and methods We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. Results We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. Conclusion The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).
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Índice:
LILACS (Américas)
Asunto principal:
Nefropatías Diabéticas
/
Enfermedades Renales Quísticas
/
Factor Nuclear 1-beta del Hepatocito
/
Hiperglucemia
/
Mutación
Tipo de estudio:
Estudio de etiología
/
Estudio de incidencia
/
Estudio observacional
/
Factores de riesgo
Límite:
Adulto
/
Humanos
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2019
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal de São Paulo/BR
/
Universidade de São Paulo/BR
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