Abstract | BACKGROUND: METHODS AND RESULTS: A patient born to non-consanguineous parents developed intractable seizures with typical hypsarrhythmic pattern in electroencephalography, and was diagnosed as having West syndrome. Because the patient showed severe developmental delay with dysmorphic facial features and hyperphosphatasia, characteristics often seen in IGDs, the patient was tested for GPI deficiency. The patient had decreased surface expression of GPI-APs on blood granulocytes and was identified to be compound heterozygous for NM_178517:c.211A>C and c.499A>G mutations in PIGW by targeted sequencing. CONCLUSION: Here we describe the first patient with deficiency of PIGW, which is involved in the addition of the acyl-chain to inositol in an early step of GPI biosynthesis. Therefore, IGD should be considered in West syndrome and flow cytometric analysis of blood cells is effective in screening IGD.
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Authors | Tomohiro Chiyonobu, Norimitsu Inoue, Masafumi Morimoto, Taroh Kinoshita, Yoshiko Murakami |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 51
Issue 3
Pg. 203-7
(Mar 2014)
ISSN: 1468-6244 [Electronic] England |
PMID | 24367057
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Glycosylphosphatidylinositols
- Membrane Proteins
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Topics |
- Abnormalities, Multiple
(genetics)
- Amino Acid Sequence
- Animals
- CHO Cells
- Cricetulus
- Glycosylphosphatidylinositols
(deficiency, genetics)
- Hemoglobinuria, Paroxysmal
(genetics)
- Humans
- Infant
- Intellectual Disability
(genetics)
- Membrane Proteins
(genetics)
- Molecular Sequence Data
- Phosphorus Metabolism Disorders
(genetics)
- Seizures
- Sequence Alignment
- Spasms, Infantile
(genetics)
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