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Abstract #61780 Published in IGR 17-1
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Ghoumid J; Petit F; Holder-Espinasse M; Jourdain AS; Guerra J; Dieux-Coeslier A; Figeac M; Porchet N; Manouvrier-Hanu S; Escande FEuropean Journal of Human Genetics 2016; 24: 44-50
Nail-Patella Syndrome (NPS) is a rare autosomal dominant condition comprising nail and skeletal anomalies. Skeletal features include dysplastic patellae and iliac horns, as well as scapula and elbow dysplasia. Nephropathy and glaucoma or intra-ocular hypertension can sometimes be present. NPS is due to variants affecting function in LMX1B, which encodes a LIM-homeodomain protein critical for limb, kidney and eye development. We describe the phenotype and the molecular data of 55 index patients and their 39 relatives presenting with typical NPS. We identified 38 different LMX1B anomalies, 19 of which were not reported before. In our series, 9% of families are not carriers of a LMX1B genomic alteration after extensive study of the coding and non-coding regions of the gene. One of the families showed no linkage to the LMX1B locus, raising the hypothesis of a genetic heterogeneity.European Journal of Human Genetics advance online publication, 22 April 2015; doi:10.1038/ejhg.2015.77.
1] Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France [2] Faculté de Médecine, Université Lille Nord de France, Lille, France.
Full articleClassification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)