Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare. The proband was an 11-year-old Chinese male with c...
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| Veröffentlicht in: | European journal of medical genetics 2023-06, Vol.66 (6), p.104753-104753, Article 104753 |
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| creator | Zhong, Fazhan Tan, Mei Gao, Yan |
| description | Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare.
The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The patient underwent a kidney transplant due to rapid deterioration of renal failure. During follow-up, a smaller field of vision, a slow increase in height, and a weight gain were observed. In addition, renal function and anemia were improved. High-throughput sequencing analysis showed two heterozygous variants in BBS2 (c.563delT (p.I188Tfs*13) inherited from the father and c.534+1G > t (splicing) from the mother) and one heterozygous variant in PKD1 (c.6223C > T (p.R2075C)) inherited from the mother.
This paper reported a ciliopathy patient with multi-allelic variants (two BBS2 variants and one PKD1 variant) that may lead to early symptoms and more rapid progression. An early genetic diagnosis may contribute to predicting disease progression and guiding management and follow-up. |
| doi_str_mv | 10.1016/j.ejmg.2023.104753 |
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The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The patient underwent a kidney transplant due to rapid deterioration of renal failure. During follow-up, a smaller field of vision, a slow increase in height, and a weight gain were observed. In addition, renal function and anemia were improved. High-throughput sequencing analysis showed two heterozygous variants in BBS2 (c.563delT (p.I188Tfs*13) inherited from the father and c.534+1G > t (splicing) from the mother) and one heterozygous variant in PKD1 (c.6223C > T (p.R2075C)) inherited from the mother.
This paper reported a ciliopathy patient with multi-allelic variants (two BBS2 variants and one PKD1 variant) that may lead to early symptoms and more rapid progression. An early genetic diagnosis may contribute to predicting disease progression and guiding management and follow-up.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2023.104753</identifier><identifier>PMID: 37003573</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>Autosomal dominant ; Bardet-Biedl syndrome ; Bardet-Biedl Syndrome - genetics ; Case report ; Child ; Ciliopathies ; Heterozygote ; Humans ; Kidney - physiology ; Male ; Mutation ; Polycystic kidney ; Polycystic Kidney, Autosomal Dominant - genetics ; Proteins - genetics ; TRPP Cation Channels - genetics</subject><ispartof>European journal of medical genetics, 2023-06, Vol.66 (6), p.104753-104753, Article 104753</ispartof><rights>2023</rights><rights>Copyright © 2023. Published by Elsevier Masson SAS.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-67e00692bf9a058084171981620d263c18c8a3ce3a90d64dcb2a5768c6b3f35c3</citedby><cites>FETCH-LOGICAL-c356t-67e00692bf9a058084171981620d263c18c8a3ce3a90d64dcb2a5768c6b3f35c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.ejmg.2023.104753$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3548,27922,27923,45993</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37003573$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhong, Fazhan</creatorcontrib><creatorcontrib>Tan, Mei</creatorcontrib><creatorcontrib>Gao, Yan</creatorcontrib><title>Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review</title><title>European journal of medical genetics</title><addtitle>Eur J Med Genet</addtitle><description>Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare.
The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The patient underwent a kidney transplant due to rapid deterioration of renal failure. During follow-up, a smaller field of vision, a slow increase in height, and a weight gain were observed. In addition, renal function and anemia were improved. High-throughput sequencing analysis showed two heterozygous variants in BBS2 (c.563delT (p.I188Tfs*13) inherited from the father and c.534+1G > t (splicing) from the mother) and one heterozygous variant in PKD1 (c.6223C > T (p.R2075C)) inherited from the mother.
This paper reported a ciliopathy patient with multi-allelic variants (two BBS2 variants and one PKD1 variant) that may lead to early symptoms and more rapid progression. An early genetic diagnosis may contribute to predicting disease progression and guiding management and follow-up.</description><subject>Autosomal dominant</subject><subject>Bardet-Biedl syndrome</subject><subject>Bardet-Biedl Syndrome - genetics</subject><subject>Case report</subject><subject>Child</subject><subject>Ciliopathies</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Kidney - physiology</subject><subject>Male</subject><subject>Mutation</subject><subject>Polycystic kidney</subject><subject>Polycystic Kidney, Autosomal Dominant - genetics</subject><subject>Proteins - genetics</subject><subject>TRPP Cation Channels - genetics</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kElvFDEQha0IlJU_wAH5mEN64mXaC-KShCyIiCABZ8vjrk48crcH2z0j_j0eJsmRU5Wq3nvS-xB6T8mMEirOlzNYDo8zRhivh7ls-R46pEqqhqi5flN3KXQjGWUH6CjnJSFcUab30QGXdW8lP0Sbb3ENAQ9TKL6xIUDwDq9t8nYs-QyXTcSXlz8YtmOH4wj4-9fP9OV_hmOPE4w2YOeDjytbnjzkj_gCO5uhvlYxlX_W4AskW6a0va49bE7Q296GDO-e5zH6dXP98-quuX-4_XJ1cd843orSCAmECM0WvbakVbUXlVQrKhjpmOCOKqcsd8CtJp2Yd27BbCuFcmLBe946foxOd7mrFH9PkIsZfHYQgh0hTtkwqblWslVtlbKd1KWYc4LerJIfbPpjKDFb4GZptsDNFrjZAa-mD8_502KA7tXyQrgKPu0EUFvW5slk52F00PkErpgu-v_l_wUBYZBr</recordid><startdate>202306</startdate><enddate>202306</enddate><creator>Zhong, Fazhan</creator><creator>Tan, Mei</creator><creator>Gao, Yan</creator><general>Elsevier Masson SAS</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>7X8</scope></search><sort><creationdate>202306</creationdate><title>Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review</title><author>Zhong, Fazhan ; Tan, Mei ; Gao, Yan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-67e00692bf9a058084171981620d263c18c8a3ce3a90d64dcb2a5768c6b3f35c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Autosomal dominant</topic><topic>Bardet-Biedl syndrome</topic><topic>Bardet-Biedl Syndrome - genetics</topic><topic>Case report</topic><topic>Child</topic><topic>Ciliopathies</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Kidney - physiology</topic><topic>Male</topic><topic>Mutation</topic><topic>Polycystic kidney</topic><topic>Polycystic Kidney, Autosomal Dominant - genetics</topic><topic>Proteins - genetics</topic><topic>TRPP Cation Channels - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhong, Fazhan</creatorcontrib><creatorcontrib>Tan, Mei</creatorcontrib><creatorcontrib>Gao, Yan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhong, Fazhan</au><au>Tan, Mei</au><au>Gao, Yan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2023-06</date><risdate>2023</risdate><volume>66</volume><issue>6</issue><spage>104753</spage><epage>104753</epage><pages>104753-104753</pages><artnum>104753</artnum><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are renal ciliopathies. BBS has 22 pathogenic genes, and ADPKD is mainly caused by PKD1 and PKD2 variants. Cases with tri-allelic variants of BBS and PKD1 are rare.
The proband was an 11-year-old Chinese male with cysts in both kidneys, blurred vision, hyperopia, and short fingers and toes. The patient underwent a kidney transplant due to rapid deterioration of renal failure. During follow-up, a smaller field of vision, a slow increase in height, and a weight gain were observed. In addition, renal function and anemia were improved. High-throughput sequencing analysis showed two heterozygous variants in BBS2 (c.563delT (p.I188Tfs*13) inherited from the father and c.534+1G > t (splicing) from the mother) and one heterozygous variant in PKD1 (c.6223C > T (p.R2075C)) inherited from the mother.
This paper reported a ciliopathy patient with multi-allelic variants (two BBS2 variants and one PKD1 variant) that may lead to early symptoms and more rapid progression. An early genetic diagnosis may contribute to predicting disease progression and guiding management and follow-up.</abstract><cop>Netherlands</cop><pub>Elsevier Masson SAS</pub><pmid>37003573</pmid><doi>10.1016/j.ejmg.2023.104753</doi><tpages>1</tpages></addata></record> |
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| subjects | Autosomal dominant Bardet-Biedl syndrome Bardet-Biedl Syndrome - genetics Case report Child Ciliopathies Heterozygote Humans Kidney - physiology Male Mutation Polycystic kidney Polycystic Kidney, Autosomal Dominant - genetics Proteins - genetics TRPP Cation Channels - genetics |
| title | Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review |
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