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Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
Am J Med Genet A. 2008 Jul 15; 146A(14):1853-8.AJ

Abstract

We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism.

Authors+Show Affiliations

Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. n.b.b.knops@umcutrecht.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18553546

Citation

Knops, Noël B B., et al. "Nephrogenic Diabetes Insipidus in a Patient With L1 Syndrome: a New Report of a Contiguous Gene Deletion Syndrome Including L1CAM and AVPR2." American Journal of Medical Genetics. Part A, vol. 146A, no. 14, 2008, pp. 1853-8.
Knops NB, Bos KK, Kerstjens M, et al. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. Am J Med Genet A. 2008;146A(14):1853-8.
Knops, N. B., Bos, K. K., Kerstjens, M., van Dael, K., & Vos, Y. J. (2008). Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. American Journal of Medical Genetics. Part A, 146A(14), 1853-8. https://doi.org/10.1002/ajmg.a.32386
Knops NB, et al. Nephrogenic Diabetes Insipidus in a Patient With L1 Syndrome: a New Report of a Contiguous Gene Deletion Syndrome Including L1CAM and AVPR2. Am J Med Genet A. 2008 Jul 15;146A(14):1853-8. PubMed PMID: 18553546.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2. AU - Knops,Noël B B, AU - Bos,Krista K, AU - Kerstjens,Mieke, AU - van Dael,Karin, AU - Vos,Yvonne J, PY - 2008/6/17/pubmed PY - 2008/8/21/medline PY - 2008/6/17/entrez SP - 1853 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 146A IS - 14 N2 - We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18553546/Nephrogenic_diabetes_insipidus_in_a_patient_with_L1_syndrome:_a_new_report_of_a_contiguous_gene_deletion_syndrome_including_L1CAM_and_AVPR2_ L2 - https://doi.org/10.1002/ajmg.a.32386 DB - PRIME DP - Unbound Medicine ER -