0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Observation |

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome

Johanna Kratzsch, MD1; Diana Mitter, MD2; Mirjana Ziemer, MD1; Jürgen Kohlhase, MD3; Harald Voth, MD1
[+] Author Affiliations
1Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany
2Department of Human Genetics, University of Leipzig, Leipzig, Germany
3Department of Human Genetics, University of Freiburg, Freiburg, Germany
JAMA Dermatol. 2016;152(7):844-845. doi:10.1001/jamadermatol.2016.0350.
Text Size: A A A
Published online

Extract

This case report describes a novel point mutation in the LEMD3 gene in an infant with Buschke-Ollendorff syndrome.

Buschke-Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disease characterized by the variable occurrence of skin lesions (connective tissue nevi such as collagenomas or elastomas) and/or bone abnormalities known as osteopoikilosis. The underlying heterozygous loss-of-function mutation in the LEM domain-containing protein 3 gene (LEMD3) was identified in 2004.1 An integral protein of the inner nuclear membrane, LEMD3 antagonizes transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling.1,2 Loss of LEMD3 expression leads to increased connective tissue and elastin production by fibroblasts via enhanced TGF-β and BMP signaling, thereby producing the characteristic clinical phenotype.3

Figures in this Article

Topics

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview

Figures

Place holder to copy figure label and caption
Figure 1.
Clinical and Pathologic Findings

A, Multiple yellowish papules coalescing into larger plaques on the left forearm. B, Accumulation of enlarged and fragmented elastic fibers in the mid-dermis under elastica van Gieson staining (original magnification ×200).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Genetic Sequence Analysis

Sequence analysis found a heterozygous novel loss-of-function mutation in exon 1 of the LEMD3 gene (c.1363c > t, p.q455*) that led to a nucleic acid exchange at position 1363 of the complementary DNA, which resulted in a premature stop codon at the translation level. Gln indicates glutamin; Leu, leucin.

Graphic Jump Location

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

215 Views
0 Citations
×

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Jobs
brightcove.createExperiences();