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Review
. 2020 Sep;8(9):e1385.
doi: 10.1002/mgg3.1385. Epub 2020 Jun 29.

SHORT syndrome in two Chinese girls: A case report and review of the literature

Yanhong Zhang  1   2 , Baolan Ji  1   2 , Jinsheng Li  3 , Yanying Li  1   2 , Mei Zhang  1   2 , Bo Ban  1   2
Affiliations
Review

SHORT syndrome in two Chinese girls: A case report and review of the literature

Yanhong Zhang et al. Mol Genet Genomic Med. 2020 Sep.

Abstract

Background: SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retardation, and metabolic anomalies and is related to heterozygous mutations in the PIK3R1 gene. However, it is difficult to ascertain the relationship between the phenotype and the genotype quickly and efficiently.

Methods: We report two Chinese girls with SHORT syndrome who presented with growth retardation, dysmorphic features, insulin resistance, and diabetes. Comprehensive medical evaluations were collected, including anthropometric measurements, laboratory measurements, and imaging examinations. Whole exome and Sanger sequencing was performed to detect and confirm the underlying genetic mutations in these patients. We prescribed metformin for the patients.

Results: The patients both presented diabetes, insulin resistance, short stature, lipodystrophy, and characteristic facial dysmorphic features. A heterozygous mutation was detected in the PIK3R1 gene (c.1615_1617del) of Patient 1. The analysis of patient 2 revealed another PIK3R1 mutation (c.1945C>T). After family validation, neither their parents nor their brothers had similar clinical presentations or carried the same mutation.

Conclusion: We identified two de novo heterozygous mutations in PIK3R1 as the cause of SHORT syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in the early treatment stage.

Keywords: PIK3R1; SHORT syndrome; diabetes; insulin resistance; short stature; whole exome sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Facial appearance and other typical features of Patient 1. (a) General appearance, (b) mixed dentition, (c) short 3rd and 4th toes of the feet, (d) short 4th and 5th metacarpals of the hand
Figure 2
Figure 2
Facial appearance and other typical features of Patient 2. (a) Facial dysmorphic signs included a triangular shape of the face, micrognathia, deep‐set eyes, hypoplastic alae nasi and low‐hanging columella, (b) subcutaneous fat was reduced, especially on the chest and back
See this image and copyright information in PMC

References

    1. Anthony, H. L. , Christopher, C. , & Robert, J. G. (1989). The SHORT syndrome_further delineation and natural history. Journal of Medical Genetics, 26, 473–475. - PMC - PubMed
    1. Bárcena, C. , Quesada, V. , De Sandre‐Giovannoli, A. , Puente, D. A. , Fernández‐Toral, J. , Sigaudy, S. , … López‐Otín, C. (2014). Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. BMC Medical Genetics, 15(1), 51. - PMC - PubMed
    1. Chudasama, K. K. , Winnay, J. , Johansson, S. , Claudi, T. , König, R. , Haldorsen, I. , … Njølstad, P. R. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. The American Journal of Human Genetics, 93(1), 150–157. 10.1016/j.ajhg.2013.05.023 - DOI - PMC - PubMed
    1. Chung, B. K. , & Gibson, W. T. (2014). Autosomal dominant PIK3R1 mutations cause SHORT syndrome. Clinical Genetics, 85(3), 228–229. 10.1111/cge.12262 - DOI - PubMed
    1. Dyment, D. A. , Smith, A. C. , Alcantara, D. , Schwartzentruber, J. A. , Basel‐Vanagaite, L. , Curry, C. J. , … Innes, A. M. (2013). Mutations in PIK3R1 cause SHORT Syndrome. The American Journal of Human Genetics, 93(1), 158–166. 10.1016/j.ajhg.2013.06.005 - DOI - PMC - PubMed

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