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

Dar Shong Lin, Jui Hsing Chang, Hsuan Liang Liu, Chin Hung Wei, Chun Yan Yeung, Che Sheng Ho, Chyong Hsin Shu, Ming Fu Chiang, Chih Kuang Chuang, Yu Wen Huang, Tsu Yen Wu, Yuan Ren Jian, Zon Darr Huang, Shuan Pei Lin

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)3095-3099
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number12
DOIs
Publication statusPublished - Dec 1 2011
Externally publishedYes

Fingerprint

Mutation
Cutis Laxa
Alleles
Hypertrophic Pyloric Stenosis
Fetal Growth Retardation
Missense Mutation
Glaucoma
De Barsy syndrome
Dilatation
Fibroblasts
Observation
Messenger RNA
Skin
Proteins

Keywords

  • Cutis laxa
  • De Barsy syndrome
  • Elastin
  • Progeroid
  • PYCR1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. / Lin, Dar Shong; Chang, Jui Hsing; Liu, Hsuan Liang; Wei, Chin Hung; Yeung, Chun Yan; Ho, Che Sheng; Shu, Chyong Hsin; Chiang, Ming Fu; Chuang, Chih Kuang; Huang, Yu Wen; Wu, Tsu Yen; Jian, Yuan Ren; Huang, Zon Darr; Lin, Shuan Pei.

In: American Journal of Medical Genetics, Part A, Vol. 155, No. 12, 01.12.2011, p. 3095-3099.

Research output: Contribution to journalArticle

Lin, DS, Chang, JH, Liu, HL, Wei, CH, Yeung, CY, Ho, CS, Shu, CH, Chiang, MF, Chuang, CK, Huang, YW, Wu, TY, Jian, YR, Huang, ZD & Lin, SP 2011, 'Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome', American Journal of Medical Genetics, Part A, vol. 155, no. 12, pp. 3095-3099. https://doi.org/10.1002/ajmg.a.34326
Lin, Dar Shong ; Chang, Jui Hsing ; Liu, Hsuan Liang ; Wei, Chin Hung ; Yeung, Chun Yan ; Ho, Che Sheng ; Shu, Chyong Hsin ; Chiang, Ming Fu ; Chuang, Chih Kuang ; Huang, Yu Wen ; Wu, Tsu Yen ; Jian, Yuan Ren ; Huang, Zon Darr ; Lin, Shuan Pei. / Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. In: American Journal of Medical Genetics, Part A. 2011 ; Vol. 155, No. 12. pp. 3095-3099.
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