All individuals with variants in gene PIGL

14 entries on 1 page. Showing entries 1 - 14.
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00025915 22444671-Fam PubMed: Ng 2012 Two siblings with Zunich neuroectodermal syndrome. ? no ? (unknown) - - 0 - - CHIME;GPIBD-5 FEatures included ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. 2 2 Philippe Campeau
00025916 - PubMed: Ng 2012 Index case with CHIME syndrome. - - ? (unknown) - - 0 - - CHIME;GPIBD-5 Clinical features included ocular colobomas, congenital heart disease, early onset migratory ichthyosiform dermatosis, mental retardation, conductive hearing loss, seizures, and typical facial features. 2 1 Philippe Campeau
00025917 - PubMed: Ng 2012 Index case with CHIME syndrome, one mutation in PIGL found. - - - - - 0 - - CHIME;GPIBD-5 Phenotype included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The patient developped acute lymphoblastic leukemia at age 4 1/2 years. 1 1 Philippe Campeau
00025918 - PubMed: Ng 2012 Index case with CHIME syndrome M no - - - 0 - - CHIME;GPIBD-5 Clinical features included bilateral retinal colobomas, subaortic stenosis, and hydronephrosis. Facial dysmorphic features were frontal bossing, a broad nasal root, a flat midface with an elongated philtrum, and slightly lowset, posteriorly angulated ears. He showed delayed psychomotor skills including speech and had conductive hearing loss and a seizure disorder. At 10 years, his skin showed mild erythema, with lamellated, ichthyosiform changes. 2 1 Philippe Campeau
00025919 22444671-Pat33300 PubMed: Ng 2012, case described in PubMed: Tinschert 1996 Index case with CHIME syndrome who carries one mutation in PIGL and a deletion on chromosome 17. F no Germany - - 0 - - CHIME;GPIBD-5 She presented craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and ultrastructural investigations of the affected skin showed characteristic but nonspecific changes. 2 1 Philippe Campeau
00155017 - PubMed: Fujiwara 2015 - F no Japan - - 0 - - HPMRS-1;GPIBD-2 - 2 1 Philippe Campeau
00155018 - PubMed: Johnson 2017 - M no - - - 0 - - CHIME;GPIBD-5 - 1 1 Philippe Campeau
00155019 277013 PubMed: Pagnamenta 2017 - F no - Caucasian - 0 - - - - 2 1 Philippe Campeau
00163760 - PubMed: Ceroni 2018 - M no Brazil - - 0 - - CHIME;GPIBD-5 - 2 1 Philippe Campeau
00207524 Patient 1 PubMed: Altassan et al., 2018 Individual presented with the main features of HPMRS; developmental delay, cognitive impairment, seizure disorder, skeletal deformities, and high alkaline phosphatase.  M no - - >10y 0 - Anti-epileptic medications HPMRS-1;GPIBD-2 Myoclonic seizures. Inguinal herna, hydrocele, strabismus. Global DD. Dysmorphic features (prominent forehead, high arched eyebrows and sparse on the outer third, nystagmus, mild telecanthus, uplifted ear lobes, open mouth with intermittent drooling). Pectus excavatum, clinodactyly involving the fifth digits, 4th and 5th toes bilaterally. reducible umbilical hernia, mild hepatomegaly, and ataxic gait. Brain MRI showed symmetrical bilateral patchy signal abnormalities in the periventricular zones in the parietal, occipital and frontal regions, white matter loss, and thin corpus callosum. Elevated ALP (968 U/L). No skin abnormalities. Normal hearing and heart evaluations. Normal Vitamin E and alpha-fetoprotein. 3 1 Philippe Campeau
00207525 Patient 2 PubMed: Altassan et al., 2018 Patient 1's younger brother M no - - >04y 0 - Anti-epileptic medications. Surgical correction of strabismus. HPMRS-1;GPIBD-2 Global DD. Tonic-clonic seizures. Strabismus (was surgically corrected). Coarse facial features (high hairlines, hypertelorism, epicanthal folds, horizontal nystagmus, depressed nasal bridge, delayed teeth eruption, everted and partially bifid lower lip, folded ears, and irregular hypopigmented skin margins surrounding the eyes and the nose.) Spastic lower limbs, bilateral brachydactyly, severe clinodactyly of both fifth fingers and toes and dry eczematous skin. High ALP level (454 U/L). No chest deformity or organomegaly. 2 1 Philippe Campeau
00207526 Case 1 PubMed: Mogami et al., 2018 3 siblings with mutations in the PIGL gene. They lacked three symptoms of CHIME syndrome (eye colobomas, heart defects, and ear anomalies). These patients are the first published cases of inherited GPI anchor deficiency with stimulation- induced epileptic myoclonic seizures, confirmed by ictal EEG. F no Japan Japanese >02y02m 0 - Antiepileptic medications. Vitamin B6 but not effective. GPIBD Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. Myoclonic jerks evoked by sudden unexpected acoustic or tactile stimuli. Focal seizures. DD. Severe ID. Ear anomalies. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. No renal abnormalities. Normal brain MRI. 1 1 Philippe Campeau
00207527 Case 2 PubMed: Mogami et al., 2018 Elder brother of Case 1 M no - - >09y04m 0 - Antiepileptic medications. Vitamin B6 but not effective. GPIBD Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. DD. Severe ID. Ear anomalies. Myoclonic and focal seizures. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. No renal abnormalities. Normal brain MRI. 1 1 Philippe Campeau
00207528 Case 3 PubMed: Mogami et al., 2018 Eldest brother of Case 1 and 2 M no - - >13y03m 0 - Antiepileptic medications GPIBD During pregnancy: foetal ultrasound shows congenital hydronephrosis. Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. DD. Severe ID. Ear anomalies. Seizures: myoclonic, focal, absence, atonic. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. 1 1 Philippe Campeau
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