Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and P...

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Published in:	Journal of medical genetics Vol. 43; no. 2; pp. 148 - 152
Main Authors:	Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Format:	Journal Article
Language:	English
Published:	London BMJ Publishing Group Ltd 01.02.2006 BMJ BMJ Publishing Group LTD BMJ Group
Subjects:	Abnormalities, Multiple - genetics Adenosine Triphosphatases - genetics Age Anemia Baller-Gerold syndrome BGS Biological and medical sciences Birth defects Cardiology. Vascular system Child Child, Preschool Craniosynostoses - genetics craniosynostosis Diseases of the osteoarticular system DNA Helicases - genetics DNA Mutational Analysis Families & family life Female Fetuses General aspects. Genetic counseling Humans Infant Infant, Newborn limb defect Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical genetics Medical sciences Mutation Mutation - genetics occipito-frontal circumference OFC Patients poikiloderma Pregnancy radial ray Radius - pathology RecQ Helicases Rothmund-Thomson syndrome RTS Short Report skin Sutures Syndrome Ultrasonic imaging Human Hypoplasia Nervous system diseases Craniosynostosis Diseases of the osteoarticular system Dysostosis Syndrome Association Gene Malformation Skull disease Genetics Mutation
ISSN:	0022-2593, 1468-6244, 1468-6244
Online Access:	Get full text
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Summary:	Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between BGS, Rothmund-Thomson syndrome (RTS), and RAPADILINO syndrome is noticeable. Because patients with RAPADILINO syndrome and a subset of patients with RTS have RECQL4 mutations, we reassessed two previously reported BGS families and found causal mutations in RECQL4 in both. In the first family, four affected offspring had craniosynostosis and radial defect and one of them developed poikiloderma. In this family, compound heterozygosity for a R1021W missense mutation and a g.2886delT frameshift mutation of exon 9 was found. In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A>C). In both families, the affected offspring had craniosynostosis, radial defects, and growth retardation, and two developed poikiloderma. Our results confirm that BGS in a subgroup of patients is due to RECQL4 mutations and could be integrated into a clinical spectrum that encompasses RTS and RAPADILINO syndrome.
Bibliography:	Correspondence to:  Lionel Van Maldergem  10 rue de la Treille, B-1050 Brussels, Belgium; vmald@skypro.be istex:5F94E0AB346A024AD50DB53029DAB64A47C493DB ark:/67375/NVC-MK4T5516-R local:0430148 href:jmedgenet-43-148.pdf PMID:15964893 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 ObjectType-Case Study-2 ObjectType-Feature-4 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.2005.031781