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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
Author(s) -
Knops Noël B.B.,
Bos Krista K.,
Kerstjens Mieke,
van Dael Karin,
Vos Yvonne J.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32386
Subject(s) - diabetes insipidus , nephrogenic diabetes insipidus , polyuria , medicine , endocrinology , xq28 , vasopressin , gene , diabetes mellitus , genetics , biology , x chromosome
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. © 2008 Wiley‐Liss, Inc.