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Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319
The reporting clinical laboratory classified the change as a variant of uncertain significance (VUS), and concluded "A genetic diagnosis of autosomal recessive CHIME syndrome is possible". The PIGL gene has been reported to cause two different autosomal recessive co …
The reporting clinical laboratory classified the change as a variant of uncertain significance (VUS), and concluded "A genetic diagnosis of …
Alu-mediated deletion of PIGL in a Patient with CHIME syndrome.
Knight Johnson A, Schaefer GB, Lee J, Hu Y, Del Gaudio D. Knight Johnson A, et al. Am J Med Genet A. 2017 May;173(5):1378-1382. doi: 10.1002/ajmg.a.38181. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371479
CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic PIGL mu …
CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in PIGL. To date, si …
What syndrome is this? CHIME syndrome.
Sidbury R, Paller AS. Sidbury R, et al. Pediatr Dermatol. 2001 May-Jun;18(3):252-4. doi: 10.1046/j.1525-1470.2001.018003252.x. Pediatr Dermatol. 2001. PMID: 11438011 No abstract available.
Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.
Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS. Schnur RE, et al. Am J Med Genet. 1997 Oct 3;72(1):24-9. Am J Med Genet. 1997. PMID: 9295069 Review.
The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. ...Histologic examination of the skin demonstrated findings of an epidermal nevus wi …
The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyo …
Mutations in PIGL in a patient with Mabry syndrome.
Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y. Fujiwara I, et al. Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706356
Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with CHIME syndrome, a rare autosomal recessive disorder characterized by colobomas, congenital heart defects, early onset migratory ichthyosiform dermatosis, intellectual disabil …
Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with CHIME syndrome, a rare autosomal r …
A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.
Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M. Al-Gazali L, et al. Am J Med Genet A. 2008 Apr 1;146A(7):813-9. doi: 10.1002/ajmg.a.32114. Am J Med Genet A. 2008. PMID: 18271001
Some of the features in this family overlap the CHIME (Coloboma of the eye, Heart defect, Ichthyosiform dermatosis, Mental retardation, and Ear defect) syndrome. However, several features described in CHIME syndrome were not present in these children. These include …
Some of the features in this family overlap the CHIME (Coloboma of the eye, Heart defect, Ichthyosiform dermatosis, Mental retardation, and …