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

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 t...

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Autores principales: Zhang, Yanhong, Ji, Baolan, Li, Jinsheng, Li, Yanying, Zhang, Mei, Ban, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507522/
https://www.ncbi.nlm.nih.gov/pubmed/32602265
http://dx.doi.org/10.1002/mgg3.1385
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author Zhang, Yanhong
Ji, Baolan
Li, Jinsheng
Li, Yanying
Zhang, Mei
Ban, Bo
author_facet Zhang, Yanhong
Ji, Baolan
Li, Jinsheng
Li, Yanying
Zhang, Mei
Ban, Bo
author_sort Zhang, Yanhong
collection PubMed
description 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.
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spelling pubmed-75075222020-09-28 SHORT syndrome in two Chinese girls: A case report and review of the literature Zhang, Yanhong Ji, Baolan Li, Jinsheng Li, Yanying Zhang, Mei Ban, Bo Mol Genet Genomic Med Original Articles 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. John Wiley and Sons Inc. 2020-06-29 /pmc/articles/PMC7507522/ /pubmed/32602265 http://dx.doi.org/10.1002/mgg3.1385 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Zhang, Yanhong
Ji, Baolan
Li, Jinsheng
Li, Yanying
Zhang, Mei
Ban, Bo
SHORT syndrome in two Chinese girls: A case report and review of the literature
title SHORT syndrome in two Chinese girls: A case report and review of the literature
title_full SHORT syndrome in two Chinese girls: A case report and review of the literature
title_fullStr SHORT syndrome in two Chinese girls: A case report and review of the literature
title_full_unstemmed SHORT syndrome in two Chinese girls: A case report and review of the literature
title_short SHORT syndrome in two Chinese girls: A case report and review of the literature
title_sort short syndrome in two chinese girls: a case report and review of the literature
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507522/
https://www.ncbi.nlm.nih.gov/pubmed/32602265
http://dx.doi.org/10.1002/mgg3.1385
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