X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

✍ Scribed by Dobyns, William B.; Berry-Kravis, Elizabeth; Havernick, Nancy J.; Holden, Kenton R.; Viskochil, David

• Book ID: 101212314
• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 56 KB
• Volume: 86
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19991008)86:4<331::aid-ajmg7>3.0.co;2-p

✦ Synopsis

Lissencephaly has been described in over 10 distinct malformation syndromes. Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalamic dysfunction including deficient temperature regulation, and ambiguous genitalia in genotypic males. Our observation of 5 affected males in one of these families is consistent with an X-linked pattern of inheritance. However, it differs in many regards from the X-linked form of isolated lissencephaly sequence that is associated with mutations of the XLIS (DCX) gene. Therefore, we propose that this disorder comprises a new X-linked malformation syndrome, which we refer to as X-linked lissencephaly with ambiguous genitalia (XLA-G). Am. J. Med. Genet. 86:331-337, 1999.