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Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene by Margherita Silengo; Giovanni Battista Ferrero; Nobuaki Wakamatsu is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene about?

Recently we described a patient with short segment Hirschsprung disease, microcephaly, mental retardation, and distinct facial appearance. In absence of zinc finger homeo box 1B (ZFHX1B) intragenic mutations, we reported him as a Goldberg-Shprintzen syndrome case [Silengo et al., 2003]. Afterwards, further molecular studies in the laboratory of Dr. Wakamatsu showed a deletion of the 2q22-q23 region encompassing the ZFHX1B gene. This patient also had pachygyria and cerebellar hypoplasia, CNS malformations never observed before in patients with 2q22-q23 deletions or ZFHX1B mutations. A contiguous genes syndrome might be responsible for the additional features of our case, but ZFHX1B haploinsufficiency multifunctional effect cannot be excluded as few patients with intragenic mutations have been reported with anomalies of the midline cerebral structures [Amiel et al., 2001;Zweir et al., 2002].

Who reads Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene?

Author

Margherita Silengo; Giovanni Battista Ferrero; Nobuaki Wakamatsu

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)