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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Sams, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in goosecoid
American Journal of Human Genetics, Volume 93, No. 6, Year 2013
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Description
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3853132/bin/mmc1.pdf
Authors & Co-Authors
Parry, David A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Logan, Clare V.
United Kingdom, Leeds
University of Leeds, School of Medicine
Stegmann, Alexander
Netherlands, Maastricht
Faculty of Health, Medicine and Life Sciences
Abdelhamed, Zakia A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Egypt, Cairo
Al-azhar University
Calder, Alistair
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Khan, Shabana
United Kingdom, Leeds
University of Leeds, School of Medicine
Bonthron, David T.
United Kingdom, Leeds
University of Leeds, School of Medicine
United Kingdom, Leeds
Chapel Allerton Hospital
Clowes, Virginia
United Kingdom, Harrow
Northwick Park Hospital
Sheridan, Eamonn G.
United Kingdom, Leeds
University of Leeds, School of Medicine
United Kingdom, Leeds
Chapel Allerton Hospital
Ghali, Neeti
United Kingdom, Harrow
Northwick Park Hospital
Chudley, Albert E.
Canada, Winnipeg
University of Manitoba
Dobbie, Angus
United Kingdom, Leeds
Chapel Allerton Hospital
Stumpel, Constance T.R.M.
Netherlands, Maastricht
Faculty of Health, Medicine and Life Sciences
Johnson, Colin A.
United Kingdom, Leeds
University of Leeds, School of Medicine
Statistics
Citations: 14
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1016/j.ajhg.2013.10.027
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics