Abstract | BACKGROUND: RESULTS: Here, we describe a third familial case with maternally inherited SRS due to a missense variant affecting the same amino acid position 279 but leading to a different amino acid substitution (p. (Arg279Ser)). The two affected family members (mother and son) presented with the complete SRS phenotype (both Netchine-Harbison CSS score 5 of 6) but without body asymmetry or adrenal insufficiency. CONCLUSIONS: In comparison with loss-of-function genomic IGF2 mutations, CDKN1C gain-of-function mutations are a less frequent cause of SRS and seem to affect a cluster of few amino acids.
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Authors | Gerhard Binder, Julian Ziegler, Roland Schweizer, Wisam Habhab, Tobias B Haack, Tilman Heinrich, Thomas Eggermann |
Journal | Clinical epigenetics
(Clin Epigenetics)
Vol. 12
Issue 1
Pg. 152
(10 19 2020)
ISSN: 1868-7083 [Electronic] Germany |
PMID | 33076988
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- CDKN1C protein, human
- Cyclin-Dependent Kinase Inhibitor p57
- IGF2 protein, human
- Human Growth Hormone
- Insulin-Like Growth Factor II
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Topics |
- Adrenal Insufficiency
(diagnosis, genetics)
- Alleles
- Amino Acid Substitution
(genetics)
- Child, Preschool
- Cyclin-Dependent Kinase Inhibitor p57
(genetics)
- Female
- Fetal Growth Retardation
(diagnosis, genetics)
- Genetic Variation
(genetics)
- Heterozygote
- Human Growth Hormone
(therapeutic use)
- Humans
- Insulin-Like Growth Factor II
(genetics)
- Male
- Mothers
- Mutation, Missense
- Osteochondrodysplasias
(diagnosis, genetics)
- Pedigree
- Phenotype
- Silver-Russell Syndrome
(diagnosis, drug therapy, genetics)
- Treatment Outcome
- Urogenital Abnormalities
(diagnosis, genetics)
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