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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2
Abstract The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and geni...
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| Published in: | Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2020-12, Vol.9 (4), p.258-262 |
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| container_title | Journal of pediatric genetics (Birmingham, Ala.) |
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| creator | Vendramini-Pittoli, Siulan Candido-Souza, Rosana Maria Quiezi, Rodrigo Gonçalves Zechi-Ceide, Roseli Maria Kokitsu-Nakata, Nancy Mizue Jehee, Fernanda Sarquis Ribeiro-Bicudo, Lucilene Arilho FitzPatrick, David R. Guion-Almeida, Maria Leine Richieri-Costa, Antonio |
| description | Abstract
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire
HCCS
gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as
MID1, NLGN4X, AMELX
,
ARHGAP6,
and
TBL1X.
The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion. |
| doi_str_mv | 10.1055/s-0039-3402047 |
| format | article |
| fullrecord | <record><control><sourceid>pubmed_cross</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7396461</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>32765930</sourcerecordid><originalsourceid>FETCH-LOGICAL-c325t-4409e6e0128c7f13b860c4076603434fb779895c3d91a8a35b9c1df637e82e283</originalsourceid><addsrcrecordid>eNp1UctKAzEUDaJY0W5dSj6gU_OaZLIRSn1CRUGF7kI6veNE05kyiYp_b0of6MIsksvNOedezkHolJIhJXl-HjJCuM64IIwItYeOGBUyE5JM97d1rmUP9UN4I-koypkuDlGPMyVzzckR6u5d2bXLOtbWL5wd4IlrwHb46d01-BIqKGMY4LH1vg3W49ErNBBcatlmjsceqogfrbcRcMLbVEcHTcRfLtaJ7iG6NvUjni4ZG_LVxU7QQWV9gP7mPUYv11fP49ts8nBzNx5NspKzPGZCEA0SCGVFqSrKZ4UkpSBKSsIFF9VMKV3ovORzTW1heT7TJZ1XkisoGLCCH6OLte7yY7aAeZn26qw3y84tbPdtWuvM35_G1ea1_TSKaykkTQLDtUByKIQOqh2XErMKwASzCsBsAkiEs98Td_Ct3QmQrQGxdrAA89Z-dE3y4D_BHxSjjWU</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2</title><source>PubMed Central</source><creator>Vendramini-Pittoli, Siulan ; Candido-Souza, Rosana Maria ; Quiezi, Rodrigo Gonçalves ; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue ; Jehee, Fernanda Sarquis ; Ribeiro-Bicudo, Lucilene Arilho ; FitzPatrick, David R. ; Guion-Almeida, Maria Leine ; Richieri-Costa, Antonio</creator><creatorcontrib>Vendramini-Pittoli, Siulan ; Candido-Souza, Rosana Maria ; Quiezi, Rodrigo Gonçalves ; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue ; Jehee, Fernanda Sarquis ; Ribeiro-Bicudo, Lucilene Arilho ; FitzPatrick, David R. ; Guion-Almeida, Maria Leine ; Richieri-Costa, Antonio</creatorcontrib><description>Abstract
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire
HCCS
gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as
MID1, NLGN4X, AMELX
,
ARHGAP6,
and
TBL1X.
The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.</description><identifier>ISSN: 2146-4596</identifier><identifier>EISSN: 2146-460X</identifier><identifier>DOI: 10.1055/s-0039-3402047</identifier><identifier>PMID: 32765930</identifier><language>eng</language><publisher>Stuttgart · New York: Georg Thieme Verlag KG</publisher><subject>Case Report</subject><ispartof>Journal of pediatric genetics (Birmingham, Ala.), 2020-12, Vol.9 (4), p.258-262</ispartof><rights>Thieme Medical Publishers.</rights><rights>Thieme Medical Publishers</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c325t-4409e6e0128c7f13b860c4076603434fb779895c3d91a8a35b9c1df637e82e283</citedby><orcidid>0000-0001-5805-0922 ; 0000-0002-5290-3987</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396461/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7396461/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32765930$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vendramini-Pittoli, Siulan</creatorcontrib><creatorcontrib>Candido-Souza, Rosana Maria</creatorcontrib><creatorcontrib>Quiezi, Rodrigo Gonçalves</creatorcontrib><creatorcontrib>Zechi-Ceide, Roseli Maria</creatorcontrib><creatorcontrib>Kokitsu-Nakata, Nancy Mizue</creatorcontrib><creatorcontrib>Jehee, Fernanda Sarquis</creatorcontrib><creatorcontrib>Ribeiro-Bicudo, Lucilene Arilho</creatorcontrib><creatorcontrib>FitzPatrick, David R.</creatorcontrib><creatorcontrib>Guion-Almeida, Maria Leine</creatorcontrib><creatorcontrib>Richieri-Costa, Antonio</creatorcontrib><title>Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2</title><title>Journal of pediatric genetics (Birmingham, Ala.)</title><addtitle>J Pediatr Genet</addtitle><description>Abstract
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire
HCCS
gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as
MID1, NLGN4X, AMELX
,
ARHGAP6,
and
TBL1X.
The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.</description><subject>Case Report</subject><issn>2146-4596</issn><issn>2146-460X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp1UctKAzEUDaJY0W5dSj6gU_OaZLIRSn1CRUGF7kI6veNE05kyiYp_b0of6MIsksvNOedezkHolJIhJXl-HjJCuM64IIwItYeOGBUyE5JM97d1rmUP9UN4I-koypkuDlGPMyVzzckR6u5d2bXLOtbWL5wd4IlrwHb46d01-BIqKGMY4LH1vg3W49ErNBBcatlmjsceqogfrbcRcMLbVEcHTcRfLtaJ7iG6NvUjni4ZG_LVxU7QQWV9gP7mPUYv11fP49ts8nBzNx5NspKzPGZCEA0SCGVFqSrKZ4UkpSBKSsIFF9VMKV3ovORzTW1heT7TJZ1XkisoGLCCH6OLte7yY7aAeZn26qw3y84tbPdtWuvM35_G1ea1_TSKaykkTQLDtUByKIQOqh2XErMKwASzCsBsAkiEs98Td_Ct3QmQrQGxdrAA89Z-dE3y4D_BHxSjjWU</recordid><startdate>20201201</startdate><enddate>20201201</enddate><creator>Vendramini-Pittoli, Siulan</creator><creator>Candido-Souza, Rosana Maria</creator><creator>Quiezi, Rodrigo Gonçalves</creator><creator>Zechi-Ceide, Roseli Maria</creator><creator>Kokitsu-Nakata, Nancy Mizue</creator><creator>Jehee, Fernanda Sarquis</creator><creator>Ribeiro-Bicudo, Lucilene Arilho</creator><creator>FitzPatrick, David R.</creator><creator>Guion-Almeida, Maria Leine</creator><creator>Richieri-Costa, Antonio</creator><general>Georg Thieme Verlag KG</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-5805-0922</orcidid><orcidid>https://orcid.org/0000-0002-5290-3987</orcidid></search><sort><creationdate>20201201</creationdate><title>Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2</title><author>Vendramini-Pittoli, Siulan ; Candido-Souza, Rosana Maria ; Quiezi, Rodrigo Gonçalves ; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue ; Jehee, Fernanda Sarquis ; Ribeiro-Bicudo, Lucilene Arilho ; FitzPatrick, David R. ; Guion-Almeida, Maria Leine ; Richieri-Costa, Antonio</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c325t-4409e6e0128c7f13b860c4076603434fb779895c3d91a8a35b9c1df637e82e283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Case Report</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vendramini-Pittoli, Siulan</creatorcontrib><creatorcontrib>Candido-Souza, Rosana Maria</creatorcontrib><creatorcontrib>Quiezi, Rodrigo Gonçalves</creatorcontrib><creatorcontrib>Zechi-Ceide, Roseli Maria</creatorcontrib><creatorcontrib>Kokitsu-Nakata, Nancy Mizue</creatorcontrib><creatorcontrib>Jehee, Fernanda Sarquis</creatorcontrib><creatorcontrib>Ribeiro-Bicudo, Lucilene Arilho</creatorcontrib><creatorcontrib>FitzPatrick, David R.</creatorcontrib><creatorcontrib>Guion-Almeida, Maria Leine</creatorcontrib><creatorcontrib>Richieri-Costa, Antonio</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of pediatric genetics (Birmingham, Ala.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vendramini-Pittoli, Siulan</au><au>Candido-Souza, Rosana Maria</au><au>Quiezi, Rodrigo Gonçalves</au><au>Zechi-Ceide, Roseli Maria</au><au>Kokitsu-Nakata, Nancy Mizue</au><au>Jehee, Fernanda Sarquis</au><au>Ribeiro-Bicudo, Lucilene Arilho</au><au>FitzPatrick, David R.</au><au>Guion-Almeida, Maria Leine</au><au>Richieri-Costa, Antonio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2</atitle><jtitle>Journal of pediatric genetics (Birmingham, Ala.)</jtitle><addtitle>J Pediatr Genet</addtitle><date>2020-12-01</date><risdate>2020</risdate><volume>9</volume><issue>4</issue><spage>258</spage><epage>262</epage><pages>258-262</pages><issn>2146-4596</issn><eissn>2146-460X</eissn><abstract>Abstract
The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire
HCCS
gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as
MID1, NLGN4X, AMELX
,
ARHGAP6,
and
TBL1X.
The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.</abstract><cop>Stuttgart · New York</cop><pub>Georg Thieme Verlag KG</pub><pmid>32765930</pmid><doi>10.1055/s-0039-3402047</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-5805-0922</orcidid><orcidid>https://orcid.org/0000-0002-5290-3987</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Case Report |
| title | Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2 |
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