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Clinical and genetic heterogeneity of Seckel syndrome.
Am J Med Genet. 2002 Nov 01; 112(4):379-83.AJ

Abstract

Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition.

Authors+Show Affiliations

Faivre L
Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, Paris, France.
Le Merrer M
No affiliation info available
Lyonnet S
No affiliation info available
Plauchu H
No affiliation info available
Dagoneau N
No affiliation info available
Campos-Xavier AB
No affiliation info available
Attia-Sobol J
No affiliation info available
Verloes A
No affiliation info available
Munnich A
No affiliation info available
Cormier-Daire V
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultChildChromosome MappingConsanguinityFamily HealthFemaleGenetic HeterogeneityGenetic Predisposition to DiseaseGrowth DisordersHumansIntellectual DisabilityMaleMicrocephalyMicrosatellite RepeatsMiddle AgedPedigreeSyndrome

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12376940

Citation

Faivre, L, et al. "Clinical and Genetic Heterogeneity of Seckel Syndrome." American Journal of Medical Genetics, vol. 112, no. 4, 2002, pp. 379-83.
Faivre L, Le Merrer M, Lyonnet S, et al. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet. 2002;112(4):379-83.
Faivre, L., Le Merrer, M., Lyonnet, S., Plauchu, H., Dagoneau, N., Campos-Xavier, A. B., Attia-Sobol, J., Verloes, A., Munnich, A., & Cormier-Daire, V. (2002). Clinical and genetic heterogeneity of Seckel syndrome. American Journal of Medical Genetics, 112(4), 379-83.
Faivre L, et al. Clinical and Genetic Heterogeneity of Seckel Syndrome. Am J Med Genet. 2002 Nov 1;112(4):379-83. PubMed PMID: 12376940.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic heterogeneity of Seckel syndrome. AU - Faivre,L, AU - Le Merrer,M, AU - Lyonnet,S, AU - Plauchu,H, AU - Dagoneau,N, AU - Campos-Xavier,A B, AU - Attia-Sobol,J, AU - Verloes,A, AU - Munnich,A, AU - Cormier-Daire,V, PY - 2002/10/12/pubmed PY - 2003/3/14/medline PY - 2002/10/12/entrez SP - 379 EP - 83 JF - American journal of medical genetics JO - Am J Med Genet VL - 112 IS - 4 N2 - Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12376940/Clinical_and_genetic_heterogeneity_of_Seckel_syndrome_ DB - PRIME DP - Unbound Medicine ER -