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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.
Am J Hum Genet. 2013 Dec 05; 93(6):1135-42.AJ

Abstract

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.

Authors+Show Affiliations

Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24290375

Citation

Parry, David A., et al. "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, vol. 93, no. 6, 2013, pp. 1135-42.
Parry DA, Logan CV, Stegmann AP, et al. SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. Am J Hum Genet. 2013;93(6):1135-42.
Parry, D. A., Logan, C. V., Stegmann, A. P., Abdelhamed, Z. A., Calder, A., Khan, S., Bonthron, D. T., Clowes, V., Sheridan, E., Ghali, N., Chudley, A. E., Dobbie, A., Stumpel, C. T., & Johnson, C. A. (2013). 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, 93(6), 1135-42. https://doi.org/10.1016/j.ajhg.2013.10.027
Parry DA, et al. SAMS, a Syndrome of Short Stature, Auditory-canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused By Mutations in Goosecoid. Am J Hum Genet. 2013 Dec 5;93(6):1135-42. PubMed PMID: 24290375.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. AU - Parry,David A, AU - Logan,Clare V, AU - Stegmann,Alexander P A, AU - Abdelhamed,Zakia A, AU - Calder,Alistair, AU - Khan,Shabana, AU - Bonthron,David T, AU - Clowes,Virginia, AU - Sheridan,Eamonn, AU - Ghali,Neeti, AU - Chudley,Albert E, AU - Dobbie,Angus, AU - Stumpel,Constance T R M, AU - Johnson,Colin A, Y1 - 2013/11/27/ PY - 2013/09/06/received PY - 2013/10/21/revised PY - 2013/10/30/accepted PY - 2013/12/3/entrez PY - 2013/12/3/pubmed PY - 2014/2/13/medline SP - 1135 EP - 42 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 93 IS - 6 N2 - 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. SN - 1537-6605 UR - https://www.unboundmedicine.com/medline/citation/24290375/SAMS_a_syndrome_of_short_stature_auditory_canal_atresia_mandibular_hypoplasia_and_skeletal_abnormalities_is_a_unique_neurocristopathy_caused_by_mutations_in_Goosecoid_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(13)00514-4 DB - PRIME DP - Unbound Medicine ER -