title: X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting.
abstract: X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene. We report on the clinical data of a boy with a 1-bp deletion (790 delC) resulting in a frame shift in the ARX gene and prolonged survival until age 18 months. Similar to other patients, the boy showed postnatal microcephaly, hypothalamic dysfunction, intractable neonatal seizures, and chronic diarrhoea. In addition, he suffered from exocrine pancreatic insufficiency and renal phosphate wasting became apparent from age 5 months, both of which have not been described previously in XLAG. This allows us to speculate that the phenotype of XLAG is more complex than hitherto known and may include renal phosphate wasting which might not have been observed in other patients due to early death.
authors.affiliation: Department of Neuropediatrics, University of Giessen, Giessen, Germany. Andreas.Hahn@paediat.med.uni-giessen.de
authors.forename: A
authors.initials: A
authors.lastname: Hahn
authors.forename: C
authors.initials: C
authors.lastname: Gross
authors.forename: G
authors.initials: G
authors.lastname: Uyanik
authors.forename: U
authors.initials: U
authors.lastname: Hehr
authors.forename: M
authors.initials: M
authors.lastname: Hügens-Penzel
authors.forename: G
authors.initials: G
authors.lastname: Alzen
authors.forename: B A
authors.initials: BA
authors.lastname: Neubauer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002540:Cerebral Cortex / Q000002:abnormalities*; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis / Q000235:genetics; D005801:Genes, Homeobox / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000378:metabolism; D008297:Male; D010641:Phenotype; D010710:Phosphates / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D019282:Wasting Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D010710:Phosphates; D014157:Transcription Factors