Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects
N. A. Zubkova,
A. A. Kolodkina,
N. A. Makretskaya,
P. L. Okorokov,
T. V. Pogoda,
E. V. Vasiliev,
V. M. Petrov,
A. N. Tiulpakov https://doi.org/10.14341/probl12745
Abstract
Gonadotropin-dependent precocious puberty (central) is a condition resulting from the early (up to 8 years in girls and 9 years in boys) reactivation of the hypothalamic-pituitary-gonadal axis. An increase in the secretion of sex steroids by the gonads in this form is a consequence of the stimulation of the sex glands by gonadotropic hormones of the pituitary gland. In the absence of central nervous system abnormalities, CPP is classified as idiopathic and as familial in some cases, emphasizing the genetic origin of this disorder. Loss-of-function mutations in Makorin Ring Finger Protein 3 (MKRN3) are the most common identified genetic cause of central precocious puberty compared to sporadic cases. In the present study we performed the first descrition of 3 family cases of central precocious puberty duo to novel MKRN3 gene mutation detected by NGS in the Russian Federation.
About the Authors
N. A. Zubkova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Natalia A. Zubkova - MD, PhD.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN: 5064-9992
Competing Interests:
No
A. A. Kolodkina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kolodkina - MD, PhD.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN: 6705-6630
Competing Interests:
No
N. A. Makretskaya
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Nina A. Makretskaya - MD, PhD.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN: 4467-7880
Competing Interests:
No
P. L. Okorokov
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Pavel L. Okorokov – MD.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN: 6989-2620
Competing Interests:
No
T. V. Pogoda
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Tatyana V. Pogoda – PhD.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN: 1013-9782
Competing Interests:
No
E. V. Vasiliev
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Evgeny V. Vasilyev - PhD, senior research associate.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN-код: 5767-1569
Competing Interests:
No
V. M. Petrov
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Vasily M. Petrov - PhD, senior research associate.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN-код: 4358-2147
Competing Interests:
No
A. N. Tiulpakov
Endocrinology Research Centre; Research Centre for Medical Genetics
Russian Federation
Competing Interests:
Russian Federation
Anatoliy N. Tyulpakov - MD, PhD.
11 Dm. Ulyanova street, 117036 Moscow.
eLibrary SPIN: 8396-1798
Competing Interests:
No
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Supplementary files
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1. Figure 1. Pedigree of the family 1. | |
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2. Figure 2. Family pedigree 2. | |
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3. Figure 3. Family pedigree 3. | |
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4. Figure 4. Electropherogram of a fragment of the sequence of exon 1 of the MKRN3 gene in members of family 1: heterozygous transversion c.118G> T with replacement of the glutamic acid (GAA) codon with a stop codon (TAA) at position 40 (p.E40X). | |
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5. Figure 5. Electropherogram of a fragment of the sequence of exon 1 of the MKRN3 gene in family members 2: heterozygous transversion c.343T> A with the replacement of cysteine (TGT) codon for serine (AGT) at position 115 (p.C115S). | |
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6. Figure 6. Electropherogram (reverse sequence) of a fragment of exon 1 of the MKRN3 gene in proband 3.1: heterozygous transversion c.1091G> C with the replacement of cysteine codon (TGC) for serine (TCC) at position 364 (p.C364S). | |
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For citations:
Zubkova N.A., Kolodkina A.A., Makretskaya N.A., Okorokov P.L., Pogoda T.V., Vasiliev E.V., Petrov V.M., Tiulpakov A.N. Clinical and molecular genetic features of 3 family cases of the central precocious puberty, due to MKRN3 gene defects. Problems of Endocrinology. 2021;67(3):55-61. (In Russ.) https://doi.org/10.14341/probl12745
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