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Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes theZFHX1B gene

✍ Scribed by Silengo, Margherita ;Ferrero, Giovanni Battista ;Wakamatsu, Nobuaki

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 26 KB
Volume: 127A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20607

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✦ Synopsis

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].

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