Document Detail

Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.
MedLine Citation:
PMID:  18553546     Owner:  NLM     Status:  MEDLINE    
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.
Noël B B Knops; Krista K Bos; Mieke Kerstjens; Karin van Dael; Yvonne J Vos
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-23     Completed Date:  2008-08-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1853-8     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
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MeSH Terms
Base Sequence
Child, Preschool
Chromosomes, Human, X / genetics
DNA Primers / genetics
Diabetes Insipidus, Nephrogenic / genetics*
Gene Deletion*
Genetic Diseases, X-Linked / genetics*
Molecular Sequence Data
Neural Cell Adhesion Molecule L1 / genetics*
Receptors, Vasopressin / genetics*
Reg. No./Substance:
0/DNA Primers; 0/Neural Cell Adhesion Molecule L1; 0/Receptors, Vasopressin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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