Tags

Type your tag names separated by a space and hit enter

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Hum Genet. 2014 Sep; 133(9):1161-7.HG

Abstract

The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem syndrome. Detailed clinical comparison between van Maldergem syndrome and Hennekam syndrome patients shows that there is a substantial overlap in phenotype, especially in facial appearance. We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome.

Authors+Show Affiliations

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.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 available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

24913602

Citation

Alders, Mariëlle, et al. "Hennekam Syndrome Can Be Caused By FAT4 Mutations and Be Allelic to Van Maldergem Syndrome." Human Genetics, vol. 133, no. 9, 2014, pp. 1161-7.
Alders M, Al-Gazali L, Cordeiro I, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014;133(9):1161-7.
Alders, M., Al-Gazali, L., Cordeiro, I., Dallapiccola, B., Garavelli, L., Tuysuz, B., Salehi, F., Haagmans, M. A., Mook, O. R., Majoie, C. B., Mannens, M. M., & Hennekam, R. C. (2014). Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Human Genetics, 133(9), 1161-7. https://doi.org/10.1007/s00439-014-1456-y
Alders M, et al. Hennekam Syndrome Can Be Caused By FAT4 Mutations and Be Allelic to Van Maldergem Syndrome. Hum Genet. 2014;133(9):1161-7. PubMed PMID: 24913602.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. AU - Alders,Mariëlle, AU - Al-Gazali,Lihadh, AU - Cordeiro,Isabelle, AU - Dallapiccola,Bruno, AU - Garavelli,Livia, AU - Tuysuz,Beyhan, AU - Salehi,Faranak, AU - Haagmans,Martin A, AU - Mook,Olaf R, AU - Majoie,Charles B, AU - Mannens,Marcel M, AU - Hennekam,Raoul C, Y1 - 2014/06/07/ PY - 2014/03/24/received PY - 2014/05/15/accepted PY - 2014/6/11/entrez PY - 2014/6/11/pubmed PY - 2014/10/8/medline SP - 1161 EP - 7 JF - Human genetics JO - Hum Genet VL - 133 IS - 9 N2 - The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. We used homozygosity mapping and whole-exome sequencing in the original HS family with multiple affected individuals in whom no CCBE1 mutation had been detected, and identified a homozygous mutation in the FAT4 gene. Subsequent targeted mutation analysis of FAT4 in a cohort of 24 CCBE1 mutation-negative Hennekam syndrome patients identified homozygous or compound heterozygous mutations in four additional families. Mutations in FAT4 have been previously associated with Van Maldergem syndrome. Detailed clinical comparison between van Maldergem syndrome and Hennekam syndrome patients shows that there is a substantial overlap in phenotype, especially in facial appearance. We conclude that Hennekam syndrome can be caused by mutations in FAT4 and be allelic to Van Maldergem syndrome. SN - 1432-1203 UR - https://www.unboundmedicine.com/medline/citation/24913602/Hennekam_syndrome_can_be_caused_by_FAT4_mutations_and_be_allelic_to_Van_Maldergem_syndrome_ L2 - https://dx.doi.org/10.1007/s00439-014-1456-y DB - PRIME DP - Unbound Medicine ER -