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Am J Hum Genet
2013 Dec 05;936:1135-42. doi: 10.1016/j.ajhg.2013.10.027.
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SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Parry DA
,
Logan CV
,
Stegmann AP
,
Abdelhamed ZA
,
Calder A
,
Khan S
,
Bonthron DT
,
Clowes V
,
Sheridan E
,
Ghali N
,
Chudley AE
,
Dobbie A
,
Stumpel CT
,
Johnson CA
.
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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 gastrulaorganizer 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.
Abdelhamed,
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
2013, Pubmed
Abdelhamed,
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
2013,
Pubmed
Belo,
The prechordal midline of the chondrocranium is defective in Goosecoid-1 mouse mutants.
1998,
Pubmed
Blum,
Gastrulation in the mouse: the role of the homeobox gene goosecoid.
1992,
Pubmed
,
Xenbase
Cho,
Molecular nature of Spemann's organizer: the role of the Xenopus homeobox gene goosecoid.
1991,
Pubmed
,
Xenbase
DePristo,
A framework for variation discovery and genotyping using next-generation DNA sequencing data.
2011,
Pubmed
Erlebacher,
Toward a molecular understanding of skeletal development.
1995,
Pubmed
GARDNER,
Prenatal development of the human shoulder and acromioclavicular joints.
1953,
Pubmed
Gaunt,
Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall.
1993,
Pubmed
Kalisz,
EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by directly repressing GOOSECOID expression.
2012,
Pubmed
Kelberman,
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.
2001,
Pubmed
Lemire,
SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.
1998,
Pubmed
Li,
The Sequence Alignment/Map format and SAMtools.
2009,
Pubmed
Matsuoka,
Neural crest origins of the neck and shoulder.
2005,
Pubmed
McGonnell,
Trunk neural crest has skeletogenic potential.
2002,
Pubmed
McKenna,
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
2010,
Pubmed
McLaren,
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor.
2010,
Pubmed
Passos-Bueno,
Syndromes of the first and second pharyngeal arches: A review.
2009,
Pubmed
Rambaldi,
FancyGene: dynamic visualization of gene structures and protein domain architectures on genomic loci.
2009,
Pubmed
Rivera-Pérez,
Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development.
1995,
Pubmed
,
Xenbase
Staack,
Mouse urogenital development: a practical approach.
2003,
Pubmed
Su,
Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.
2010,
Pubmed
Yamada,
Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death.
1995,
Pubmed
Zhu,
Malformation of trachea and pelvic region in goosecoid mutant mice.
1998,
Pubmed
ter Heide,
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.
2002,
Pubmed
