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A familial case of insulin-dependent diabetes mellitus with a mutation in the PTF1A gene

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Diabetes mellitus (DM) is a genetically heterogeneous disease, and some cases of type 1 diabetes mellitus (T1DM) are caused by a mutation of one gene. The child has suffered from brittle diabetes since the age of 1 year and received insulin. The HbA1c level is 9.9—11.4%. The patient was examined at the age of 14 years; the disease duration is 13 years. The daily dose of insulin is 1.15—1.35 U/kg. DM complications include initial manifestations of distal diabetic polyneuropathy as well as cheiropathy. The mother (39 years) and grandmother (74 years) have T1DM with multiple complications. A genetic study revealed that all three family members had a heterozygous substitution p.P274 in the PTF1A gene with an unknown pathological significance.

At present, it can not be asserted that the identified mutation is the etiologic factor of diabetes in the described case. We can not exclude T1DM in this child because specific antibodies have not been tested. However, the mutation is detected in all three members of the same family with diabetes, which does not exclude the discovery of a new form of MODY, not described earlier.

Galina N. Svetlova

Endocrinology Research Centre

Email: g_svetlova@mail.ru
ORCID iD: 0000-0002-4328-2090
SPIN-code: 9356-2673

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Tamara L. Kuraeva

Endocrinology Research Centre; I.M. Sechenov First Moscow State Medical University

Email: diabetkuraeva@mail.ru
ORCID iD: 0000-0003-4950-3920
SPIN-code: 8206-0406

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036; 8-2, Trubetskaya street, Moscow, 119992

MD, PhD, Professor

Elena A. Sechko

Endocrinology Research Centre

Author for correspondence.
Email: elena.sechko@bk.ru
ORCID iD: 0000-0002-8181-5572
SPIN-code: 4608-5650

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Valentina A. Peterkova

Endocrinology Research Centre

Email: peterkovava@hotmail.com
ORCID iD: 0000-0002-5507-4627

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036

MD, PhD, Professor

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Supplementary files

Supplementary Files Action
1. Bloodline of the proband family. View (157KB) Indexing metadata


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Copyright (c) 2018 Svetlova G.N., Kuraeva T.L., Sechko E.A., Peterkova V.A.

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