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.
journal_name
BMC Pediatrjournal_title
BMC pediatricsauthors
Fu L,Liu Y,Chen Y,Yuan Y,Wei Wdoi
10.1186/s12887-019-1440-8subject
Has Abstractpub_date
2019-02-27 00:00:00pages
68issue
1issn
1471-2431pii
10.1186/s12887-019-1440-8journal_volume
19pub_type
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