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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Bibliographic Details
Published in:	Case reports in genetics Vol. 2024; pp. 1 - 3
Main Authors:	Obaid, Osama, Batawi, Reem, Alqurashi, Heba, Ewis, Thana, Obaid, Ahmad A.
Format:	Journal Article
Language:	English
Published:	Hindawi 23-03-2024 John Wiley & Sons, Inc Hindawi Limited
Subjects:	Enzymes Gene mutations Genetic aspects Genetic disorders Glaucoma in children Health aspects Mental illness Saudi Arabia
Online Access:	Get full text
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Summary:	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.
ISSN:	2090-6544 2090-6552
DOI:	10.1155/2024/3561555