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一名两岁女童的SHORT综合征——病例报告

SHORT syndrome in a two-year-old girl - case report.

作者信息

Klatka Maria, Rysz Izabela, Kozyra Katarzyna, Polak Agnieszka, Kołłątaj Witold

机构信息

Department of Paediatric Endocrinology and Diabetology, Medical University of Lublin, Prof. Antoni Gebala Street 6, PL-20-093, Lublin, Poland.

Department of Endocrinology, Medical University of Lublin, Lublin, Poland.

出版信息

Ital J Pediatr. 2017 May 4;43(1):44. doi: 10.1186/s13052-017-0362-z.

DOI:10.1186/s13052-017-0362-z
PMID:28472977
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5418728/
Abstract

BACKGROUND

SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown.

CASE PRESENTATION

We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1.

CONCLUSIONS

The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.

摘要

背景

SHORT综合征是一种罕见的遗传性先天性缺陷疾病。该疾病的发病率仍然未知。

病例报告

我们报告了一名患有SHORT综合征的两岁四个月大女性，她存在生长发育迟缓及畸形特征（三角形脸、前额突出、眼窝凹陷、腰部和肘部周围脂肪营养不良），与该综合征所描述的表型一致。分子分析显示PIK3R1基因第15外显子存在杂合变异c.1956dupT（p.Lys653*）。

结论

该疾病的发病率仍然未知；全球仅报道了几十例病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/9f29a74aedad/13052_2017_362_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/da41e0ff5c02/13052_2017_362_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/c5642a42f29f/13052_2017_362_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/9a2903ddc980/13052_2017_362_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/9f29a74aedad/13052_2017_362_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/da41e0ff5c02/13052_2017_362_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/c5642a42f29f/13052_2017_362_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/9a2903ddc980/13052_2017_362_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6a48/5418728/9f29a74aedad/13052_2017_362_Fig4_HTML.jpg

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Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27.
2
PI3K/Akt is involved in brown adipogenesis mediated by growth differentiation factor-5 in association with activation of the Smad pathway.PI3K/Akt 参与由生长分化因子-5 介导的棕色脂肪生成，与 Smad 通路的激活有关。
Biochem Biophys Res Commun. 2014 Jul 18;450(1):255-60. doi: 10.1016/j.bbrc.2014.05.108. Epub 2014 Jun 2.
3
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
源于SHORT综合征的非典型糖尿病：一例报告
Front Endocrinol (Lausanne). 2024 Dec 13;15:1467364. doi: 10.3389/fendo.2024.1467364. eCollection 2024.
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A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.与SHORT综合征和无丙种球蛋白血症相关的PIK3R1基因突变的一种新型变体。
Cureus. 2024 Jun 23;16(6):e62983. doi: 10.7759/cureus.62983. eCollection 2024 Jun.
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