Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Guo, Michael H.; Stoler, Joan; Lui, Julian; Nilsson, Ola; Bianchi, Diana W.; Hirschhorn, Joel N.; Dauber, Andrew

doi:10.1002/ajmg.a.36128

Cited by 52Connective tissue disorders researchProteoglycans and glycosaminoglycans researchGenomics and Rare Diseases

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

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Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew·2013·American Journal of Medical Genetics Part A

DOI 10.1002/ajmg.a.36128PMC PMC3788078

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Abstract

Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid variant of Ehlers–Danlos syndrome. Here, we conducted exome sequencing in a patient with a previously undiagnosed growth disorder and identified compound heterozygous mutations in B4GALT7. This patient is just the fourth individual with genetically confirmed progeroid variant of Ehlers–Danlos syndrome. The mutations include a previously characterized c.808C>T p.Arg270Cys substitution, and a novel c.122T>C p.Leu41Pro substitution. We demonstrate that the novel mutation caused decreased levels of the enzyme, supporting the pathogenicity of the mutation. Our report identifies a novel mutation in B4GALT7 causing the progeroid variant of Ehlers–Danlos syndrome and contributes an extensive phenotypic characterization of a patient with the syndrome. We also reviewed the previous literature in addition to the present patient, and conclude that the key features associated with B4GALT7 deficiency are short stature, developmental anomalies of the forearm bones and elbow, and bowing of the extremities, in addition to the classic features of Ehlers–Danlos syndrome. This report helps define the phenotype of the progeroid variant of Ehlers–Danlos syndrome and furthers our understanding of the effect of proteoglycan defects in growth disorders. © 2013 Wiley Periodicals, Inc.

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The ages at publication of spEDS-B4GALT7 patients ranged from 2 years to 33 years.
“The ages at publication ranged from 2 years to 33 years [Kresse et al., 1987, Faiyaz-Ul-Haque et al., 2004, Guo et al., 2013, Arunrut et al., 2016, Salter et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Guo et al., 2013
The Results (Clinical Report; page unavailable) describe this paper’s patient at age 10, which falls within the claimed range. The Discussion (Comparison with Previous Reports; page unavailable) identifies other B4GALT7-deficient patients, but our copy does not establish that their ages at publication—or the ages across the cited reports—ranged from 2 to 33 years. (LLM, conf=0.81)
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Authors: Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A.
Affiliations: Harvard University (US)
Boston Children's Hospital (US)
National Institutes of Health (US)
Tufts Medical Center (US)
Broad Institute (US)
Corresponding author: Dauber, Andrew
ORCID: Guo, Michael H.
Stoler, Joan
Lui, Julian
Bianchi, Diana W.
Hirschhorn, Joel N.
Dauber, Andrew
Venue: American Journal of Medical Genetics Part A
Publisher: Wiley
Published: 2013-08-16
Volume: 161
Issue: 10
Pages: 2519-2527
ISSN: 1552-4825 (ISSN-L)
1552-4833
DOI: 10.1002/ajmg.a.36128
PMC: PMC3788078
OpenAlex: W2069824197
Cited by: 52
References: 26
Citations by year: 2026: 1 · 2024: 4 · 2023: 1 · 2022: 3 · 2021: 4 · 2020: 6 · 2019: 9 · 2018: 2 · 2017: 5 · 2016: 6 · 2015: 5 · 2014: 5
FWCI: 3.53
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics Part A (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: Harvard University
Harvard Catalyst
National Institutes of Health
National Center for Research Resources (UL1RR025758)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (K23HD073351, ZIAHD000640)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: proteoglycan synthesis, compound heterozygosity, short stature, skeletal dysplasia, growth disorders, exome sequencing, variant pathogenicity
MeSH terms: Animals, Ehlers-Danlos Syndrome, Galactosyltransferases, Humans, Infant, Male, Mutation, Phenotype, Gene Expression, Exome

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Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

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