English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement

Spielmann, M., Marx, S., Barbi, G., Flottmann, R., Kehrer-Sawatzki, H., Konig, R., et al. (2016). Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A, 170A(5), 1202-1207. doi:10.1002/ajmg.a.37560.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002D-E1C7-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002D-E1C8-5
Genre: Journal Article

Files

show Files
hide Files
:
Spielmann.pdf (Publisher version), 768KB
Name:
Spielmann.pdf
Description:
-
Visibility:
Public
MIME-Type / Checksum:
application/pdf / [MD5]
Technical Metadata:
Copyright Date:
-
Copyright Info:
© 2016 Wiley Periodicals, Inc.
License:
-

Locators

show
hide
Description:
-

Creators

show
hide
 Creators:
Spielmann, M.1, Author              
Marx, S., Author
Barbi, G., Author
Flottmann, R., Author
Kehrer-Sawatzki, H., Author
Konig, R., Author
Horn, D., Author
Mundlos, S.1, Author              
Nader, S., Author
Borck, G., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Content

show
hide
Free keywords: Abnormalities, Multiple/diagnostic imaging/*genetics Brachydactyly/diagnostic imaging/*genetics/physiopathology/surgery Child Chromosome Deletion Chromosome Duplication Chromosomes, Human, Pair 2/*genetics Diabetes, Gestational/genetics/physiopathology Female Femur/*abnormalities/diagnostic imaging/physiopathology/surgery Histone Deacetylases/genetics Humans Pierre Robin Syndrome/diagnostic imaging/*genetics/physiopathology/surgery Pregnancy Repressor Proteins/genetics Risk Factors Hacns1 array-CGH de novo complex genomic rearrangement femoral facial syndrome (FFS) femoral hypoplasia unusual face syndrome (FHUFS) limb enhancer element 921
 Abstract: The femoral facial syndrome (FFS) is a rare congenital anomaly syndrome characterized by bilateral femoral hypoplasia and facial dysmorphism. The etiology of FFS is currently unknown but maternal/gestational diabetes has been proposed as a strong risk factor for syndromic femoral hypoplasia. In affected children born to non-diabetic mothers, a genetic contribution to FFS is suspected; however, no chromosomal anomalies or gene mutations have been identified so far. Here, we report on a girl with FFS and a de novo complex chromosome rearrangement of terminal chromosome 2q37.2. Radiographs of the pelvis and lower limbs showed bilateral shortening and bowing of the femur and radiographs of hands and feet revealed a brachydactyly type E (BDE). Using high resolution array-CGH, qPCR, and FISH, we detected a ~1.9 Mb duplication in the chromosomal region 2q37.2 and a ~5.4 Mb deletion on chromosome 2q37.3 that were absent in the parents. The duplication contains six genes and the deletion encompasses 68 genes; the latter has previously been shown to cause BDE (through haploinsufficiency for HDAC4) but not femoral hypoplasia. Therefore, we propose that the duplication 2q37.2 could be causative for the femur phenotype. To the best of our knowledge, our report is the first to propose a genetic cause in a case of FFS.

Details

show
hide
Language(s): eng - English
 Dates: 2016-01-292016-05
 Publication Status: Published in print
 Pages: 6
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1002/ajmg.a.37560
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: American Journal of Medical Genetics Part A
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: - Volume / Issue: 170A (5) Sequence Number: - Start / End Page: 1202 - 1207 Identifier: ISSN: 1552-4825
CoNE: /journals/resource/954925476465