Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott-Rallison syndrome)

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Tikhonovich Iu.V.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossii

Stotikova O.V.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Rubtsov P.M.

Engelhardt Institute of Molecular Biology, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott-Rallison syndrome)

Authors:

Tikhonovich Iu.V., Stotikova O.V., Rubtsov P.M., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2015;61(6): 26‑30

DOI: 10.14341/probl201561631-35

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To cite this article:

Tikhonovich IuV, Stotikova OV, Rubtsov PM, Tiul'pakov AN. Rare form of Permanent Neonatal Diabetes Mellitus (PNDM) due to novel mutation in EIF2AK3 gene (Wolcott-Rallison syndrome). Problems of Endocrinology. 2015;61(6):26‑30. (In Russ.)
https://doi.org/10.14341/probl201561631-35

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Abstract:

Wolcott—Rallison syndrome (WRS) is a rare genetic disease inherited in autosomal recessive way. Сlinical manifestations develop in early infancy with symptoms of permanent neonatal diabetes mellitus (PNDM), skeletal dysplasia, short stature and hepatic dysfunction. The condition has poor prognosis and most patients die at a young age due to episodes of acute liver or renal failure. To date about 60 genetically proved cases of WRS have been reported worldwide. The disease is most common in countries where consanguineous marriages are frequent, such as the Saudi Arabia (60% cases of PNDM patients), India, Turkey, Pakistan and North Africa. In Russian Federation WRS patients have not been described earlier.

Keywords:

permanent neonatal diabetes mellitus

EIF2AK3 gene

Wolcott—Rallison syndrome

spondyloepiphyseal dysplasia

Authors:

Tikhonovich Iu.V.

Éndokrinologicheskiĭ nauchnyĭ tsentr Minzdravsotsrazvitiia Rossii

Stotikova O.V.

Rossiĭskaia detskaia klinicheskaia bol'nitsa, Moskva

Rubtsov P.M.

Engelhardt Institute of Molecular Biology, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

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