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- Title
Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.
- Authors
Obaid, Osama; Batawi, Reem; Alqurashi, Heba; Ewis, Thana; Obaid, Ahmad A.
- Abstract
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.
- Subjects
CONGENITAL glaucoma; GLAUCOMA; FACIAL abnormalities; CLEFT palate; BRAIN abnormalities
- Publication
Case Reports in Genetics, 2024, Vol 2024, p1
- ISSN
2090-6544
- Publication type
Case Study
- DOI
10.1155/2024/3561555