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31.07.2017 | Letter to the Editors

PMM2-CDG and sensorineural hearing loss

verfasst von: Çiğdem Seher Kasapkara, Zeren Barış, Mustafa Kılıç, Deniz Yüksel, Lies Keldermans, Gert Matthijs, Jaak Jaeken

Erschienen in: Journal of Inherited Metabolic Disease | Ausgabe 5/2017

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Aeby A, Prigogine C, Vilain C et al (2016) RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. Epileptic Disord 18:92–96PubMed

Al Teneiji A, Bruun TU, Sidky S et al (2017) Phenotypic and genotypic spectrum of congenital disorders of glycosylation type 1 and type II. Mol Genet Metab 120:235–242CrossRefPubMed

Arslan S, Işik AU, Imamoğlu M et al (2013) Universal newborn hearing screening; automated transient evoked otoacoustic emissions. B-ENT 9:122–131PubMed

Barba C, Darra F, Cusmai R et al (2016) Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. Dev Med Child Neurol 58:1085–1091CrossRefPubMed

Barone R, Carrozzi M, Parini R et al (2015) A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. J Neurol 262:154–164CrossRefPubMed

Enns GM, Steiner RD, Buist N et al (2002) Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr 141:695–700CrossRefPubMed

Feraco P, Mirabelli-Badenier M, Severino M et al (2012) The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type Ia. Am J Neuroradiol 33:2062–2067CrossRefPubMed

García Silva MT, de Castro J, Stibler H et al (1996) Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 19:257–259CrossRefPubMed

Gehrmann J, Sohlbach K, Linnebank M et al (2003) Cardiomyopathy in congenital disorders of glycosylation. Cardiol Young 13:345–351PubMed

Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B (1991) Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 66:1027–1032CrossRefPubMedPubMedCentral

Hutchesson ACJ, Gray RGF, Spencer DA, Keir G (1995) Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. Arch Dis Child 72:445–446CrossRefPubMedPubMedCentral

Imtiaz F, Worthington V, Champion M et al (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab 23:162–174CrossRef

Jaeken J, Vleugels W, Régal L et al (2009) RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. J Inherit Metab Dis 32(Suppl 1):S335–S338CrossRefPubMed

Kjaergaard S, Schwartz M, Skovby F (2001) Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Arch Dis Child 85:236–239CrossRefPubMedPubMedCentral

Kristiansson B, Andersson M, Tonnby B, Hagberg B (1989) Disialotransferrin developmental deficiency syndrome. Arch Dis Child 64:71–76CrossRefPubMedPubMedCentral

Messenger WB, Yang P, Pennes ME (2014) Ophthalmic findings in an infant with phosphomannomutase deficiency. Doc Ophthalmol 182:149–153CrossRef

Ondruskova N, Vesela K, Hansikova H et al (2012) RFT1-CDG in adult siblings with novel mutations. Mol Genet Metab 107:760–762CrossRefPubMed

Pascolini D, Smith A (2009) Hearing impairment in 2008: a compilation of available epidemiological studies. Int J Audiol 48:473–485CrossRefPubMed

Pérez-Cerdá C, Girós ML, Serrano M et al (2017) A population-based study oncongenital disorders of protein N- and combined with O-glycosylation experiencein clinical and genetic diagnosis. J Pediatr 183:170–177CrossRefPubMed

Régal L, van Hasselt PM, Foulquier F et al (2015) ALG11-CDG: three novel mutations and further characterization of the phenotype. Mol Genet Metab Rep 2:16–19CrossRefPubMed

Rind N, Schmeiser V, Thiel C et al (2010) A severe human metabolic disease caused by deficiency of the endoplasmic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. Hum Mol Genet 19:1413–1424CrossRefPubMed

Szlago M, Massari M, Cayssials A, Caceres L, Matthijs G, Jaeken J (2006) Congenital disorders of glycosylation type I a (CDG Ia) in argentine: clinical, biochemical and molecular findings in two patients. J Inherit Metab Dis 29(Suppl 1):161

Thiel C, Rind N, Popovici GF et al (2012) Improved diagnostics leads to identification of three new patients with congenital disorder of glycosylation-Ip. Hum Mutat 33:485–487CrossRefPubMed

Ulusoy S, Ugras H, Cingi C et al (2014) The results of national newborn hearing screening (NNHS) data of 11,575 newborns from west part of Turkey. Eur Rev Med Pharmacol Sci 18:2995–3003PubMed

van de Kamp JM, Lefeber DJ, Ruijter GJG et al (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44:277–280CrossRefPubMed

Veneselli E, Biancheri R, Di Rocco M, Tortorelli S (1998) Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency. Eur J Paediatr Neurol 2:239–244CrossRefPubMed

Titel: PMM2-CDG and sensorineural hearing loss
verfasst von: Çiğdem Seher Kasapkara
Zeren Barış
Mustafa Kılıç
Deniz Yüksel
Lies Keldermans
Gert Matthijs
Jaak Jaeken
Publikationsdatum: 31.07.2017
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe 5/2017
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0073-z

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