BACKGROUND: Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases. In this paper we report a novel IDS nonsense mutation resulting in MPS II in several patients from a Chinese family. METHODS: IDS enzyme activity, polymerase chain reaction, and DNA sequencing were performed to confirm the diagnosis of MPS II. RESULTS: Three patients had no detectable IDS activity. Two genetic tests revealed a novel IDS nonsense mutation (c.1030G>T, p.E344X) inherited from their mothers. The nonsense mutation shortened the peptide chain from 550 to 344 amino acids, which is believed to be a disease-causing mutation. CONCLUSIONS: MPS II is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. Genetic testing is necessary to identify disease-causing mutation. With this information, carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk become possible.
BACKGROUND:Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases. In this paper we report a novel IDS nonsense mutation resulting in MPS II in several patients from a Chinese family. METHODS:IDS enzyme activity, polymerase chain reaction, and DNA sequencing were performed to confirm the diagnosis of MPS II. RESULTS: Three patients had no detectable IDS activity. Two genetic tests revealed a novel IDS nonsense mutation (c.1030G>T, p.E344X) inherited from their mothers. The nonsense mutation shortened the peptide chain from 550 to 344 amino acids, which is believed to be a disease-causing mutation. CONCLUSIONS:MPS II is inherited in an X-linked manner. The risk to sibs depends on the carrier status of the mother. Genetic testing is necessary to identify disease-causing mutation. With this information, carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk become possible.
Authors: F Baehner; C Schmiedeskamp; F Krummenauer; E Miebach; M Bajbouj; C Whybra; A Kohlschütter; C Kampmann; M Beck Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982
Authors: Joseph Muenzer; M Beck; C M Eng; M L Escolar; R Giugliani; N H Guffon; P Harmatz; W Kamin; C Kampmann; S T Koseoglu; B Link; R A Martin; D W Molter; M V Muñoz Rojas; J W Ogilvie; R Parini; U Ramaswami; M Scarpa; I V Schwartz; R E Wood; E Wraith Journal: Pediatrics Date: 2009-11-09 Impact factor: 7.124
Authors: J Edmond Wraith; Michael Beck; Roberto Giugliani; Joe Clarke; Rick Martin; Joseph Muenzer Journal: Genet Med Date: 2008-07 Impact factor: 8.822
Authors: Joseph Muenzer; James E Wraith; Michael Beck; Roberto Giugliani; Paul Harmatz; Christine M Eng; Ashok Vellodi; Rick Martin; Uma Ramaswami; Muge Gucsavas-Calikoglu; Suresh Vijayaraghavan; Susanne Wendt; Suzanne Wendt; Ana Cristina Puga; Antonio Puga; Brian Ulbrich; Marwan Shinawi; Maureen Cleary; Diane Piper; Anne Marie Conway; Ann Marie Conway; Alan Kimura Journal: Genet Med Date: 2006-08 Impact factor: 8.822
Authors: J Edmond Wraith; Maurizio Scarpa; Michael Beck; Olaf A Bodamer; Linda De Meirleir; Nathalie Guffon; Allan Meldgaard Lund; Gunilla Malm; Ans T Van der Ploeg; Jiri Zeman Journal: Eur J Pediatr Date: 2007-11-23 Impact factor: 3.183