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

@article{Zhang2020SHORTSI,
  title={SHORT syndrome in two Chinese girls: A case report and review of the literature},
  author={Yanhong Zhang and Baolan Ji and Jinsheng Li and Yanying Li and Mei Zhang and B. Ban},
  journal={Molecular Genetics \& Genomic Medicine},
  year={2020},
  volume={8}
}
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. 
2 Citations
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
TLDR
Specific facial dysmorphisms of this case help to confirm the diagnosis with timely genetic testing and then provide appropriate management and proper care, and this case is the first SHORT syndrome in Taiwan. Expand
Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report
TLDR
This is the first case of TNDM in SHORT syndrome due to a pathogenic variant of PIK3R1, and it is believed that this case can aid in expanding the phenotypes of SH short syndrome. Expand

References

SHOWING 1-10 OF 19 REFERENCES
SHORT syndrome in a two-year-old girl – case report
TLDR
The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1 in the two-year-four-month old female with SHORT syndrome, consistent with the phenotype described for this syndrome. Expand
A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature
Pathogenic variants of ANKRD11 have been reported to cause KBG syndrome characterized by short stature, characteristic facial appearance, intellectual disability, macrodontia, and skeletal anomalies.Expand
SHORT syndrome
We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic featuresExpand
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome
TLDR
Two children in whom nephrocalcinosis has developed and a third, adult, with similar findings suggest that clinicians should be looking among cases of unexplained hypercalcaemia for an alternative phenotypic presentation of this short stature syndrome. Expand
The SHORT syndrome: further delineation and natural history.
TLDR
The sixth reported case of the SHORT syndrome is described and is compared with other cases and a striking absence of subcutaneous fat, particularly in the face, has persisted and now includes the shoulders and chest. Expand
PIK3R1 mutations in SHORT syndrome
TLDR
These two patients provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene. Expand
Mutations in PIK3R1 cause SHORT syndrome.
TLDR
The findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway. Expand
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management
TLDR
The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied and the major features described in the SHORT acronym were not universally seen and only half had four or more of the classic features. Expand
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
TLDR
This study used whole-exome sequencing approaches in two patients with clinical features of SHORT syndrome and found a novel frameshift mutation in PIK3R1 which consists of a deletion right before the site of substrate recognition, resulting in the development ofSHORT syndrome. Expand
Insulin‐resistant diabetes during growth hormone therapy in a child with SHORT syndrome
TLDR
The case of a 13‐year‐old boy with SHORT syndrome, including lipoatrophy and insulin resistance, who developed diabetes mellitus while receiving growth hormone therapy, which was successful and could be discontinued eight months later. Expand
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