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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Clin Genet. 2014 Sep; 86(3):246-51.CG

Abstract

Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype-phenotype correlations. Most mutation-negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity.

Authors+Show Affiliations

Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU Lille, Lille, France; Laboratoire de Biologie Moléculaire, Centre de Biologie Pathologie, CHRU Lille, Lille, France; Université Lille Nord de France.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 available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24003905

Citation

Petit, F, et al. "Nager Syndrome: Confirmation of SF3B4 Haploinsufficiency as the Major Cause." Clinical Genetics, vol. 86, no. 3, 2014, pp. 246-51.
Petit F, Escande F, Jourdain AS, et al. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin Genet. 2014;86(3):246-51.
Petit, F., Escande, F., Jourdain, A. S., Porchet, N., Amiel, J., Doray, B., Delrue, M. A., Flori, E., Kim, C. A., Marlin, S., Robertson, S. P., Manouvrier-Hanu, S., & Holder-Espinasse, M. (2014). Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clinical Genetics, 86(3), 246-51. https://doi.org/10.1111/cge.12259
Petit F, et al. Nager Syndrome: Confirmation of SF3B4 Haploinsufficiency as the Major Cause. Clin Genet. 2014;86(3):246-51. PubMed PMID: 24003905.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. AU - Petit,F, AU - Escande,F, AU - Jourdain,A S, AU - Porchet,N, AU - Amiel,J, AU - Doray,B, AU - Delrue,M A, AU - Flori,E, AU - Kim,C A, AU - Marlin,S, AU - Robertson,S P, AU - Manouvrier-Hanu,S, AU - Holder-Espinasse,M, Y1 - 2013/09/12/ PY - 2013/06/04/received PY - 2013/07/16/revised PY - 2013/08/19/accepted PY - 2013/9/6/entrez PY - 2013/9/6/pubmed PY - 2015/5/13/medline KW - Nager syndrome KW - SF3B4 KW - acro-facial dysostosis KW - spliceosome SP - 246 EP - 51 JF - Clinical genetics JO - Clin Genet VL - 86 IS - 3 N2 - Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype-phenotype correlations. Most mutation-negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/24003905/Nager_syndrome:_confirmation_of_SF3B4_haploinsufficiency_as_the_major_cause_ L2 - https://doi.org/10.1111/cge.12259 DB - PRIME DP - Unbound Medicine ER -