Another TWIST on Baller-Gerold syndrome

Baller‐Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. Wide heterogeneity exists with regard to the presence of additional anomalies. Most of the 31 reported cases involve other malformations, including cardiac, Central Nervous System (CNS), and urogenital...

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Bibliographic Details
Published in:	American journal of medical genetics Vol. 104; no. 4; pp. 323 - 330
Main Authors:	Seto, Marianne L., Lee, Samson J., Sze, Raymond W., Cunningham, Michael L.
Format:	Journal Article
Language:	English
Published:	New York John Wiley & Sons, Inc 15.12.2001 Wiley-Liss
Subjects:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Baller-Gerold syndrome Base Sequence Biological and medical sciences Child Child, Preschool Craniosynostoses - pathology craniosynostosis Diseases of the osteoarticular system DNA - chemistry DNA - genetics DNA Mutational Analysis Ear - abnormalities Family Health Follow-Up Studies Humans Infant Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Mutation, Missense Nuclear Proteins radial ray hypoplasia/aplasia Radius - abnormalities Saethre-Chotzen syndrome Syndrome Transcription Factors - genetics TWIST Twist-Related Protein 1 Heart Nonsense mutation Parent Craniosynostosis Variability Diseases of the osteoarticular system Inheritance Central nervous system Bilateral Male Characterization Heterogeneity Association Gene Anomaly Cervicitis Upper limb Human Hypoplasia Nervous system diseases Synostosis Dysostosis Urogenital Female genital diseases Case study Malformation Skull disease Uterine cervix diseases
ISSN:	0148-7299, 1096-8628
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Summary:	Baller‐Gerold syndrome is characterized by craniosynostosis and preaxial upper limb malformations. Wide heterogeneity exists with regard to the presence of additional anomalies. Most of the 31 reported cases involve other malformations, including cardiac, Central Nervous System (CNS), and urogenital anomalies. Baller‐Gerold syndrome is thought to have autosomal recessive inheritance. However, Gripp et al. [1999: Am. J. Med. Genet. 82:170–176] recently provided the first evidence for autosomal dominant inheritance with variable expressivity and severity. A nonsense mutation was found in TWIST, a gene associated with Saethre‐Chotzen syndrome (SCS). Here we report on a male Caucasian patient of nonconsanguineous parents, with synostosis of the coronal, metopic, and sagittal sutures, and bilateral radial ray hypoplasia. The patient's small, round ears with prominent crus helices, and cervical anomalies are common features of SCS. The father had very mild features of SCS. We identify direct paternal transmission of a novel missense TWIST mutation in the highly conserved Helix II domain of this bHLH‐family gene. This report lends further support to the recent findings by Gripp et al. [1999]. Future TWIST mutational analysis on patients with craniosynostosis and radial ray involvement will shed light on whether Baller‐Gerold syndrome should be a distinct entity or some cases should be reclassified as a heterogeneous form of SCS. © 2001 Wiley‐Liss, Inc.
Bibliography:	istex:A3DAC14974C48B6833C52B9C821440031B1590A0 ArticleID:AJMG10065 ark:/67375/WNG-84PXH8K1-F Children's Hospital and Regional Medical Center Research Endowment National Institutes of Heath Comprehensive Center for Oral Health Research - No. P60 13061 March of Dimes - No. FY00-745 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Review-5 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.10065