Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations
Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor...
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| Veröffentlicht in: | European journal of medical genetics 2020-04, Vol.63 (4), p.103802-103802, Article 103802 |
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| container_end_page | 103802 |
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| container_issue | 4 |
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| container_title | European journal of medical genetics |
| container_volume | 63 |
| creator | Holtz, Alexander M. Harrington, Amanda W. McNamara, Erin R. Kielian, Agnieszka Soul, Janet S. Martinez-Ojeda, Mayra Levy, Philip T. |
| description | Mabry syndrome is a glycophosphatidylinositol (GPI) deficiency characterized by intellectual disability, distinctive facial features, intractable seizures, and hyperphosphatasia. We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations. |
| doi_str_mv | 10.1016/j.ejmg.2019.103802 |
| format | Article |
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We expand the phenotypic spectrum of inherited GPI deficiencies with novel bi-allelic phosphatidylinositol glycan anchor biosynthesis class O (PIGO) variants in a neonate who presented with intractable epilepsy and complex gastrointestinal and urogenital malformations.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Anal atresia</subject><subject>Drug Resistant Epilepsy - genetics</subject><subject>Epilepsy</subject><subject>Esophageal atresia</subject><subject>Female</subject><subject>Gastrointestinal Tract - abnormalities</subject><subject>Genetic Variation</subject><subject>Glycophosphatidylinositol</subject><subject>Glycosylphosphatidylinositols - deficiency</subject><subject>GPI anchor</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - genetics</subject><subject>Mabry syndrome</subject><subject>Membrane Proteins - genetics</subject><subject>Phenotype</subject><subject>Phosphorus Metabolism Disorders - genetics</subject><subject>PIGO</subject><subject>Urogenital Abnormalities - genetics</subject><subject>VACTERL</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kctu1DAUhiMEoqXwAiyQlyyawZeMk0hsUFVKpaIiAWvrxDmZeJTYxvYMzfvxYHhIYcnKt-_851hfUbxmdMMok-_2G9zPuw2nrM0XoqH8SXHOmropaVO1T_O-lm1Zc8bPihcx7mlmGG-fF2eCybZhlJ8Xv64fPNje2B1JIxI_onVp8UaT6FGncJiJG8hn6MJCvi62D25G8tOkkVh3xIl8ub25Jzu0SI4QDNgUCcTotIGE_QqOi8fgRxf9CAmigUtibAqgE3QTEvRmQh-XS5LnINrNfsIHsoOYgsscxmQsTH8eD8HlVibl4wzT4MIMyTgbXxbPBpgivnpcL4rvH6-_XX0q7-5vbq8-3JVabGUqoRetbDpawbZqeN8JrJptJ2sAyVFLOWDTo-w6jTVWVStazrcZYrRqOXaiFhfF2zXXB_fjkCdTs4kapwksukNUXDAhJKWcZpSvqA4uxoCD8sHMEBbFqDrZU3t1sqdO9tRqLxe9ecw_dDP2_0r-6srA-xXA_MujwaCiNmg19iZkW6p35n_5vwHN4bG-</recordid><startdate>202004</startdate><enddate>202004</enddate><creator>Holtz, Alexander M.</creator><creator>Harrington, Amanda W.</creator><creator>McNamara, Erin R.</creator><creator>Kielian, Agnieszka</creator><creator>Soul, Janet S.</creator><creator>Martinez-Ojeda, Mayra</creator><creator>Levy, Philip T.</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>202004</creationdate><title>Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations</title><author>Holtz, Alexander M. ; 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| identifier | ISSN: 1769-7212 |
| ispartof | European journal of medical genetics, 2020-04, Vol.63 (4), p.103802-103802, Article 103802 |
| issn | 1769-7212 1878-0849 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Abnormalities, Multiple - genetics Anal atresia Drug Resistant Epilepsy - genetics Epilepsy Esophageal atresia Female Gastrointestinal Tract - abnormalities Genetic Variation Glycophosphatidylinositol Glycosylphosphatidylinositols - deficiency GPI anchor Humans Infant, Newborn Intellectual Disability - genetics Mabry syndrome Membrane Proteins - genetics Phenotype Phosphorus Metabolism Disorders - genetics PIGO Urogenital Abnormalities - genetics VACTERL |
| title | Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations |
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