Conflict of interest: none.
Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature
Article first published online: 16 AUG 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 10, pages 2519–2527, October 2013
How to Cite
2013. Redefining the progeroid form of Ehlers–Danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet Part A 161A:2519–2527., , , , , , .
- Issue published online: 17 SEP 2013
- Article first published online: 16 AUG 2013
- Manuscript Accepted: 15 JUN 2013
- Manuscript Received: 3 APR 2013
- Harvard Catalyst, The Harvard Clinical and Translational Science Center. Grant Number: UL1 RR 025758
- NIH. Grant Number: 1K23HD073351-01
- Genentech Center for Clinical Research in Endocrinology
- March of Dimes. Grant Number: 6-FY09-507
- Translational Research Program, Boston Children's Hospital
- Swedish Research Council. Grant Numbers: K2007-52X-20316-01-4, K2012-99X-21998-01-3
- Stockholm County Council
- Swedish Society of Medicine
- Her Royal Highness Crown Princess Lovisa's Foundation for Pediatric Care
- Wera Ekstrom's Foundation for Pediatric Research
- Märta och Gunnar V Philipson's Foundation
- Sällskapet Barnavård
- Karolinska Institutet
Additional supporting information may be found in the online version of this article at the publisher's web-site.
|ajmga36128-sm-0001-SuppFig-S1.tif||2345K||FIG. S1. Photographs taken at 10 years of age demonstrating various clinical features of the patient. A: Marked skin hyperextensibility. B: Normal facial features. C: Mild pectus carinatum. D: Ulnar bowing of forearms. E: Hyperflexible joints. F: Pes planus.|
|ajmga36128-sm-0001-SuppFig-S2.tif||498K||FIG. S2. Sanger sequencing for patient and family at B4GALT7 nucleotide positions 122 (reference allele, T) and 808 (reference allele, C). Top chromatogram for each individual is position 122 and bottom chromatogram is position 808. The c.l22T>C was transmitted from the father to the patient, and the c.808C>T was transmitted from the mother to the patient, resulting in a compound heterozygous state for the patient. The unaffected sibling is homozygous wild type for both alleles.|
|ajmga36128-sm-0001-SuppFig-S3.tif||1430K||FIG. S3. A: Amino acid sequence alignments show homology across evolution at both leucine 41 and arginine 270. Alignments were generated using NCBI HomoloGene. B: Sequence annotation of β1,4-galactosyltransferase 7 protein from UniProt. The protein is predicted to be a Type II transmembrane protein in the Golgi membrane. Amino acids 1-30 are predicted to be cytoplasmic (gray), 31–51 are predicted to be a transmembrane domain (blue) and 52–327 are predicted to be a Golgi lumenal domain (green). Approximate locations of mutations found in our patient (p.L41P and p.R270C), as well as other previously described pathogenic variants (p.A186D, p.L206P) are indicated above the figure.|
|ajmga36128-sm-0001-SuppTab-S1.docx||112K||Table SI. Summary of Patient's Variants|
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