Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report.
BMC Pediatr
; 19(1): 68, 2019 02 27.
Article
em En
| MEDLINE
| ID: mdl-30813920
ABSTRACT
BACKGROUND:
Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessive neurological disorder typically characterised by recurrent seizures, intellectual disability, and distinct facial features. Here, we report an extremely rare case of a Chinese boy with compound heterozygous PIGW mutations who suffers from severe pneumonia, mental retardation, and epilepsy. CASE PRESENTATION A 70-day-old boy presented with fever and cough over 20 days in duration at the time of admission. At the age of 6 months, unusual facial features were apparent, and seizures were clinically observed, accompanied by obvious cognitive delay. Next-generation sequencing identified novel PIGW c.178G > A and c.462A > T mutations, confirmed by Sanger sequencing.CONCLUSIONS:
Mutations in the PIGW gene in infants can cause various symptoms and multiple anomalies. Next-generation sequencing efficiently detects such mutations. The compound PIGW mutations that we describe expand the genotype/phenotype spectrum of HPMRS and may aid in clinical treatment.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distúrbios do Metabolismo do Fósforo
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Anormalidades Múltiplas
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Aciltransferases
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Mutação Puntual
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Glicosilfosfatidilinositóis
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Proteínas de Membrana
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Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article