De Barsy syndrome and ATP6V0A2-CDG

Leão‐Teles, Elisa; Quelhas, Dulce; Vilarinho, Laura; Jaeken, Jaak

doi:10.1038/ejhg.2009.218

Cited by 17 publications

(13 citation statements)

References 8 publications

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“…Since the p.P115fsX7 mutation results in unstable and rapidly degraded mRNA in vivo [Lin et al, 2011], it is likely that the missense mutation p.G248E too is null at the functional level. This report further establishes the deficiency of PYCR1 as one of the causes of DBS [Leao‐Teles et al, 2010].…”

Section: Discussionsupporting

confidence: 76%

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

Lin¹,

Chang²,

Liu³

et al. 2011

American J of Med Genetics Pt A

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De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric stenosis in this patient widened the range of symptoms that have been noted in DBS. Mutation analysis of PYCR1 revealed compound heterozygous PYCR1 mutations, including a p.P115fsX7 null mutation allele and a second allele with two missense mutations in cis: p.G248E and p.G297R. The effect of mutation results in a reduction of PYCR1 mRNA expression and PYCR1 protein expression in skin fibroblasts from the patient. The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with DBS.

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Section: Discussionsupporting

confidence: 76%

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

Lin¹,

Chang²,

Liu³

et al. 2011

American J of Med Genetics Pt A

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“…Although the genetic cause of DBS remains poorly defined, several publications identifying ATP6V0A2 and PYCR1 mutations in ARCL may have included some patients with DBS. 1,50,51,60 Urban-Rifkin-Davis syndrome URDS (MIM613177)ealso known as CL with severe pulmonary, gastrointestinal, and urinary abnormalitieseis a recently characterized autosomal recessive disorder caused by LTBP4 mutations. 61 Respiratory complications are often fatal during infancy and include emphysema, atelectasis, tracheomalacia, and diaphragmatic hernia (Fig 6, A and B).…”

Section: Arcl Type III (Dbs)mentioning

confidence: 99%

Cutis laxa: A review

Berk

Bentley

Bayliss

et al. 2012

Journal of the American Academy of Dermatology

182

155

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“…Correct clinical and molecular characterization of ARCL patients might be relevant for the differential diagnosis of ARCL syndromes easing management, prognosis, and counseling of this still puzzling group of disorders. In fact, it is still difficult to assign an unequivocal clinical picture to each individual gene defect [Leao‐Teles et al, 2010; Kouwenberg et al, 2011; Yildirim et al, 2011]. Whilst reviewing PYCR1 and ALDH18A1 mutated patients, we found several examples of such difficulties.…”

Section: To the Editormentioning

confidence: 74%

“…Leao‐Teles et al [2010] reported an ATP6V0A2‐CDG patient with cutis laxa, dwarfism, psychomotor disability, dystonia, congenital hip dysplasia, and corneal dystrophy arguing for phenotypic overlap with DBS. We suspect that in this case numerous features clearly distinguish ATP6V0A2‐related ARCL (termed WSS or ARCL type 2A or cutis laxa Debré type) from DBS: (i) a very characteristic flat face, brachycephaly, midface hypoplasia, down‐slanting palpebral fissures, anteverted nares, and long philtrum; (ii) skin is not thin but extremely over folded; and (iii) patients show abnormal protein glycosylation pattern [Kornak et al, 2008].…”

Section: To the Editormentioning

confidence: 99%