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L1CAM whole gene deletion in a child with L1 syndrome.
. 2014 Jun; 164A(6):1555-8.

Abstract

L1 syndrome is a group of overlapping, X-linked disorders caused by mutations in L1CAM. Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum. Over 200 mutations in L1CAM have been reported; however, only a few large gene deletions have been observed. We report on a 4-month-old male with a de novo whole gene deletion of L1CAM presenting with congenital hydrocephalus, aqueductal stenosis, and adducted thumbs. Initial failure of L1CAM gene sequencing suggested the possibility of a whole gene deletion of L1CAM. Further investigation through chromosome microarray analysis showed a 62Kb deletion encompassing the first exon of the PDZD4 gene and the entire L1CAM gene. Investigations into genotype-phenotype correlations have suggested that mutations leading to truncated or absent L1 protein cause more severe forms of L1 syndrome. Based on the presentation of the proband and other reported patients with whole gene deletions, we provide further evidence that L1CAM whole gene deletions result in L1 syndrome with a severe phenotype, deletions of PDZD4 do not cause additional manifestations, and that X-linked nephrogenic diabetes insipidus reported in a subset of patients with large L1CAM deletions results from the loss of AVPR2.

Authors+Show Affiliations

Integrated Oncology and Genetic Services, ARUP Laboratories, Salt Lake City, Utah.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24668863

Citation

Chidsey, Brandalyn A., et al. "L1CAM Whole Gene Deletion in a Child With L1 Syndrome." American Journal of Medical Genetics. Part A, vol. 164A, no. 6, 2014, pp. 1555-8.
Chidsey BA, Baldwin EE, Toydemir R, et al. L1CAM whole gene deletion in a child with L1 syndrome. Am J Med Genet A. 2014;164A(6):1555-8.
Chidsey, B. A., Baldwin, E. E., Toydemir, R., Ahles, L., Hanson, H., & Stevenson, D. A. (2014). L1CAM whole gene deletion in a child with L1 syndrome. American Journal of Medical Genetics. Part A, 164A(6), 1555-8. https://doi.org/10.1002/ajmg.a.36474
Chidsey BA, et al. L1CAM Whole Gene Deletion in a Child With L1 Syndrome. Am J Med Genet A. 2014;164A(6):1555-8. PubMed PMID: 24668863.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - L1CAM whole gene deletion in a child with L1 syndrome. AU - Chidsey,Brandalyn A, AU - Baldwin,Erin E, AU - Toydemir,Reha, AU - Ahles,Lauren, AU - Hanson,Heather, AU - Stevenson,David A, Y1 - 2014/03/25/ PY - 2013/09/27/received PY - 2013/12/31/accepted PY - 2014/3/27/entrez PY - 2014/3/29/pubmed PY - 2015/1/15/medline KW - L1 syndrome KW - L1CAM KW - PDZD4 KW - congenital hydrocephalus KW - neural cell adhesion molecule L1 KW - whole gene deletion SP - 1555 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 164A IS - 6 N2 - L1 syndrome is a group of overlapping, X-linked disorders caused by mutations in L1CAM. Clinical phenotypes within L1 syndrome include X-linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum. Over 200 mutations in L1CAM have been reported; however, only a few large gene deletions have been observed. We report on a 4-month-old male with a de novo whole gene deletion of L1CAM presenting with congenital hydrocephalus, aqueductal stenosis, and adducted thumbs. Initial failure of L1CAM gene sequencing suggested the possibility of a whole gene deletion of L1CAM. Further investigation through chromosome microarray analysis showed a 62Kb deletion encompassing the first exon of the PDZD4 gene and the entire L1CAM gene. Investigations into genotype-phenotype correlations have suggested that mutations leading to truncated or absent L1 protein cause more severe forms of L1 syndrome. Based on the presentation of the proband and other reported patients with whole gene deletions, we provide further evidence that L1CAM whole gene deletions result in L1 syndrome with a severe phenotype, deletions of PDZD4 do not cause additional manifestations, and that X-linked nephrogenic diabetes insipidus reported in a subset of patients with large L1CAM deletions results from the loss of AVPR2. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24668863/L1CAM_whole_gene_deletion_in_a_child_with_L1_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.36474 DB - PRIME DP - Unbound Medicine ER -