Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia
Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal brid...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2024/3561555 |
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| author | Osama Obaid Reem Batawi Heba Alqurashi Thana Ewis Ahmad A. Obaid |
| author_facet | Osama Obaid Reem Batawi Heba Alqurashi Thana Ewis Ahmad A. Obaid |
| author_sort | Osama Obaid |
| collection | DOAJ |
| description | Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma. |
| format | Article |
| id | doaj-art-257754f6fcf94614a2335cb8af688af7 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-257754f6fcf94614a2335cb8af688af72025-02-03T01:29:50ZengWileyCase Reports in Genetics2090-65522024-01-01202410.1155/2024/3561555Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated HyperphosphatasiaOsama Obaid0Reem Batawi1Heba Alqurashi2Thana Ewis3Ahmad A. Obaid4Department of PediatricsDepartment of PediatricsDepartment of PediatricsDepartment of RadiologyDepartment of Laboratory MedicineHyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids. Seven-month-old boy diagnosed with bilateral glaucoma had a cleft palate, facial dysmorphism, hypertelorism, a broad nasal bridge, and large fleshy earlobes. A brain MRI scan also revealed brain abnormalities. The observed phenotype in a seven-month-old boy is in agreement with the phenotypic features of HPRMS type-4. Whole exome sequencing revealed a possible pathogenic variant of PGAP3 in a homozygous state (c.320C > T, p.Ser107Leu) which supported the diagnosis of HPRMS type-4. We report an unusual presentation for HPMRS and suggest adding this syndrome to the list of differential diagnoses of syndromic congenital glaucoma.http://dx.doi.org/10.1155/2024/3561555 |
| spellingShingle | Osama Obaid Reem Batawi Heba Alqurashi Thana Ewis Ahmad A. Obaid Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia Case Reports in Genetics |
| title | Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia |
| title_full | Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia |
| title_fullStr | Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia |
| title_full_unstemmed | Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia |
| title_short | Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia |
| title_sort | bilateral glaucoma as possible additional feature for pgap3 associated hyperphosphatasia |
| url | http://dx.doi.org/10.1155/2024/3561555 |
| work_keys_str_mv | AT osamaobaid bilateralglaucomaaspossibleadditionalfeatureforpgap3associatedhyperphosphatasia AT reembatawi bilateralglaucomaaspossibleadditionalfeatureforpgap3associatedhyperphosphatasia AT hebaalqurashi bilateralglaucomaaspossibleadditionalfeatureforpgap3associatedhyperphosphatasia AT thanaewis bilateralglaucomaaspossibleadditionalfeatureforpgap3associatedhyperphosphatasia AT ahmadaobaid bilateralglaucomaaspossibleadditionalfeatureforpgap3associatedhyperphosphatasia |