SHORT syndrome in an adult Brazilian patient
We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs pre...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2022-05, Vol.188 (5), p.1635-1638 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Gonçalves, Ana Caroline G. Moretti, Patricia N. Cordoba, Mara S. Oliveira, Renata S. Lopes, Fernanda S. C. Oliveira, Silviene F. Pic‐Taylor, Aline Castro, Luiz Claudio Mazzeu, Juliana F. |
| description | We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r‐hGH) therapy was administered prior to diagnosis; however, the use of r‐hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases. |
| doi_str_mv | 10.1002/ajmg.a.62660 |
| format | Article |
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C. ; Oliveira, Silviene F. ; Pic‐Taylor, Aline ; Castro, Luiz Claudio ; Mazzeu, Juliana F.</creator><creatorcontrib>Gonçalves, Ana Caroline G. ; Moretti, Patricia N. ; Cordoba, Mara S. ; Oliveira, Renata S. ; Lopes, Fernanda S. C. ; Oliveira, Silviene F. ; Pic‐Taylor, Aline ; Castro, Luiz Claudio ; Mazzeu, Juliana F.</creatorcontrib><description>We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r‐hGH) therapy was administered prior to diagnosis; however, the use of r‐hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62660</identifier><identifier>PMID: 35080105</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adult ; Brazil ; Class Ia Phosphatidylinositol 3-Kinase - genetics ; Diagnosis ; Genotypes ; Growth Disorders ; Growth hormones ; Hernia ; Humans ; Hypercalcemia ; insulin resistance ; Intellectual disabilities ; Metabolic Diseases ; Microcephaly ; Nephrocalcinosis - diagnosis ; Nephrocalcinosis - genetics ; Patients ; Phenotype ; Phenotypes ; PIK3R1 ; progeroid appearance ; short stature ; SHORT syndrome</subject><ispartof>American journal of medical genetics. 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C.</creatorcontrib><creatorcontrib>Oliveira, Silviene F.</creatorcontrib><creatorcontrib>Pic‐Taylor, Aline</creatorcontrib><creatorcontrib>Castro, Luiz Claudio</creatorcontrib><creatorcontrib>Mazzeu, Juliana F.</creatorcontrib><title>SHORT syndrome in an adult Brazilian patient</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r‐hGH) therapy was administered prior to diagnosis; however, the use of r‐hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.</description><subject>Adult</subject><subject>Brazil</subject><subject>Class Ia Phosphatidylinositol 3-Kinase - genetics</subject><subject>Diagnosis</subject><subject>Genotypes</subject><subject>Growth Disorders</subject><subject>Growth hormones</subject><subject>Hernia</subject><subject>Humans</subject><subject>Hypercalcemia</subject><subject>insulin resistance</subject><subject>Intellectual disabilities</subject><subject>Metabolic Diseases</subject><subject>Microcephaly</subject><subject>Nephrocalcinosis - diagnosis</subject><subject>Nephrocalcinosis - genetics</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>PIK3R1</subject><subject>progeroid appearance</subject><subject>short stature</subject><subject>SHORT syndrome</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kF1LwzAUQIMobk7ffJaCr-vMx02aPc6hmzIZ6HwOaZpKR79MWmT-ejs79ygEbi4czoWD0DXBE4IxvdPb4mOiJ4IKgU_QkHBOQ5CMnR7_lA_QhfdbjBnmkThHA8axxATzIRq_Ldevm8DvysRVhQ2yMtDdS9q8Ce6d_s7yrNtr3WS2bC7RWapzb68Oc4TeHx8282W4Wi-e5rNVaBgjOGQQAycJxDFEkEqWAKOYAbNTkwiwmlMQETEyhYQza6SBKUgtqOFEx5ERbIRue2_tqs_W-kZtq9aV3UlFBUgQcir21LinjKu8dzZVtcsK7XaKYLVPo_ZplFa_aTr85iBt48ImR_ivRQdAD3xlud39K1Oz55fFrPf-AEqCbRY</recordid><startdate>202205</startdate><enddate>202205</enddate><creator>Gonçalves, Ana Caroline G.</creator><creator>Moretti, Patricia N.</creator><creator>Cordoba, Mara S.</creator><creator>Oliveira, Renata S.</creator><creator>Lopes, Fernanda S. C.</creator><creator>Oliveira, Silviene F.</creator><creator>Pic‐Taylor, Aline</creator><creator>Castro, Luiz Claudio</creator><creator>Mazzeu, Juliana F.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><orcidid>https://orcid.org/0000-0002-6161-0510</orcidid><orcidid>https://orcid.org/0000-0002-5121-8814</orcidid></search><sort><creationdate>202205</creationdate><title>SHORT syndrome in an adult Brazilian patient</title><author>Gonçalves, Ana Caroline G. ; Moretti, Patricia N. ; Cordoba, Mara S. ; Oliveira, Renata S. ; Lopes, Fernanda S. C. ; Oliveira, Silviene F. ; Pic‐Taylor, Aline ; Castro, Luiz Claudio ; Mazzeu, Juliana F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3310-34b451d4bb474f83d4320343e9cd64ea524671c8f4d53ec8c4948a62c51ab7c63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Adult</topic><topic>Brazil</topic><topic>Class Ia Phosphatidylinositol 3-Kinase - genetics</topic><topic>Diagnosis</topic><topic>Genotypes</topic><topic>Growth Disorders</topic><topic>Growth hormones</topic><topic>Hernia</topic><topic>Humans</topic><topic>Hypercalcemia</topic><topic>insulin resistance</topic><topic>Intellectual disabilities</topic><topic>Metabolic Diseases</topic><topic>Microcephaly</topic><topic>Nephrocalcinosis - diagnosis</topic><topic>Nephrocalcinosis - genetics</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>PIK3R1</topic><topic>progeroid appearance</topic><topic>short stature</topic><topic>SHORT syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gonçalves, Ana Caroline G.</creatorcontrib><creatorcontrib>Moretti, Patricia N.</creatorcontrib><creatorcontrib>Cordoba, Mara S.</creatorcontrib><creatorcontrib>Oliveira, Renata S.</creatorcontrib><creatorcontrib>Lopes, Fernanda S. C.</creatorcontrib><creatorcontrib>Oliveira, Silviene F.</creatorcontrib><creatorcontrib>Pic‐Taylor, Aline</creatorcontrib><creatorcontrib>Castro, Luiz Claudio</creatorcontrib><creatorcontrib>Mazzeu, Juliana F.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gonçalves, Ana Caroline G.</au><au>Moretti, Patricia N.</au><au>Cordoba, Mara S.</au><au>Oliveira, Renata S.</au><au>Lopes, Fernanda S. C.</au><au>Oliveira, Silviene F.</au><au>Pic‐Taylor, Aline</au><au>Castro, Luiz Claudio</au><au>Mazzeu, Juliana F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SHORT syndrome in an adult Brazilian patient</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2022-05</date><risdate>2022</risdate><volume>188</volume><issue>5</issue><spage>1635</spage><epage>1638</epage><pages>1635-1638</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G>A (p.Ala486Thr) at PIK3R1. Human recombinant growth hormone (r‐hGH) therapy was administered prior to diagnosis; however, the use of r‐hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>35080105</pmid><doi>10.1002/ajmg.a.62660</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-6161-0510</orcidid><orcidid>https://orcid.org/0000-0002-5121-8814</orcidid></addata></record> |
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| subjects | Adult Brazil Class Ia Phosphatidylinositol 3-Kinase - genetics Diagnosis Genotypes Growth Disorders Growth hormones Hernia Humans Hypercalcemia insulin resistance Intellectual disabilities Metabolic Diseases Microcephaly Nephrocalcinosis - diagnosis Nephrocalcinosis - genetics Patients Phenotype Phenotypes PIK3R1 progeroid appearance short stature SHORT syndrome |
| title | SHORT syndrome in an adult Brazilian patient |
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