X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family

• Published in: American journal of medical genetics 1999-03, Vol.83 (1), p.23-27
• Main Authors: Colquhoun-Kerr, James S., Gu, Wen-Xia, Jameson, J. Larry, Withers, Stephen, Bode, Hans H.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Codon, Nonsense; Complex syndromes; Female; Frameshift Mutation; Genetic Linkage; hereditary renal adysplasia; Humans; KAL-1 gene; Kallmann syndrome; Kallmann Syndrome - genetics; Kidney - abnormalities; Male; Medical genetics; Medical sciences; Pedigree; renal agenesis; Sequence Analysis, DNA; Tropical medicine; X Chromosome - genetics
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19990305)83:1<23::AID-AJMG6>3.0.CO;2-O

Males with X‐linked Kallmann syndrome (XLKS) may have renal agenesis. We studied a large kindred with a history of eight males affected by XLKS born in five generations. Their XLKS was shown to be due to an intragenic mutation of the KAL‐1 gene. We also documented three male neonatal deaths due to bilateral renal agenesis (BRA), five males with unilateral renal agenesis (URA), and one female with a pelvic ectopic kidney in this kindred. Of four XLKS males who had renal imaging studies, two had URA. The kindred's KAL‐1 mutation was not present in three of the males with URA, the female with the ectopic kidney, nor in preserved autopsy tissue from one infant with BRA. The high frequency of renal agenesis in this family, in the presence and absence of the KAL‐1 mutation, suggests an autosomal dominant or X‐linked gene which may independently or co‐dependently contribute to renal agenesis. Am. J. Med. Genet. 83:23–27, 1999. © 1999 Wiley‐Liss, Inc.