2018
DOI: 10.1590/1678-4685-gmb-2017-0172
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Abstract: CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface proteins including receptors, enzymes, and adhesion molecules. Germline mutations in other members of GPI and Post GPI Attachment to Proteins (PGAP) family genes have been described and constitute a group of diseases withi… Show more

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Cited by 7 publications
(10 citation statements)
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“…In this case, the genotype/phenotype correlation partially matched a diagnosis of CHIME syndrome. Along with the core features of this syndrome, other clinical signs have been described: epileptic seizures, facial dysmorphism (including a prominent forehead, hypertelorism, and epicanthal folds), widely spaced teeth, and skin, hair, and nail anomalies (such as sparse, thin hair, thick palms and soles, and migratory ichthyosis) 5,6,8–10 . Our patient's clinical features, including early‐onset epilepsy, hair, tooth and nail abnormalities, and ichthyosiform dermatitis, were consistent with a diagnosis of CHIME.…”
Section: Discussionsupporting
confidence: 73%
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“…In this case, the genotype/phenotype correlation partially matched a diagnosis of CHIME syndrome. Along with the core features of this syndrome, other clinical signs have been described: epileptic seizures, facial dysmorphism (including a prominent forehead, hypertelorism, and epicanthal folds), widely spaced teeth, and skin, hair, and nail anomalies (such as sparse, thin hair, thick palms and soles, and migratory ichthyosis) 5,6,8–10 . Our patient's clinical features, including early‐onset epilepsy, hair, tooth and nail abnormalities, and ichthyosiform dermatitis, were consistent with a diagnosis of CHIME.…”
Section: Discussionsupporting
confidence: 73%
“…Our patient's clinical features, including early‐onset epilepsy, hair, tooth and nail abnormalities, and ichthyosiform dermatitis, were consistent with a diagnosis of CHIME. Persistent, excessive growth has also been reported in two cases of CHIME syndrome 6 . The clinical and molecular features of the eight previously reported PIGL ‐related CHIME syndrome are summarized in the supplementary data (Table ).…”
Section: Discussionmentioning
confidence: 95%
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“…Apart from patients with focal onset there was also one with unknown onset of seizures. Other symptoms identified in presented GPIBD5 included intellectual (5/5) and motor (4/5) development delay, cerebellar atrophy (3/5), nystagmus, and strabismus (1/5; in the same subject) (46)(47)(48).…”
Section: Pigl (Phosphatidylinositol Glycan Anchor Biosynthesismentioning
confidence: 99%