Dataset Information

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

ABSTRACT: Hirschsprung disease (HSCR) is a common malformation of neural-crest-derived enteric neurons that is frequently associated with other congenital abnormalities. The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly, and with facial dysmorphism. We screened 19 patients with HSCR and mental retardation and eventually identified large-scale SMADIP1 deletions or truncating mutations in 8 of 19 patients. These results allow further delineation of the spectrum of malformations ascribed to SMADIP1 haploinsufficiency, which includes frequent features such as hypospadias and agenesis of the corpus callosum. Thus, SMADIP1, which encodes a transcriptional corepressor of Smad target genes, may play a role not only in the patterning of neural-crest-derived cells and of CNS but also in the development of midline structures in humans.

SUBMITTER: Amiel J

PROVIDER: S-EPMC1235547 | biostudies-literature | 2001 Dec

REPOSITORIES: biostudies-literature

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Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Amiel J J Espinosa-Parrilla Y Y Steffann J J Gosset P P Pelet A A Prieur M M Boute O O Choiset A A Lacombe D D Philip N N Le Merrer M M Tanaka H H Till M M Touraine R R Toutain A A Vekemans M M Munnich A A Lyonnet S S

American journal of human genetics 20011010 6

Hirschsprung disease (HSCR) is a common malformation of neural-crest-derived enteric neurons that is frequently associated with other congenital abnormalities. The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly, and with facial dysmorphism. We screened 19 patients with HSCR and mental retardation and eventually identified large-scale SMADIP1 deletions or trun ...[more]

PMID: 11595972

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Project description:The term autobiographical self has been used to refer to a mental state that permits reflection on self-identity and personality and the answer to related questions (Damasio, 1998). It requires the retrieval and integrated assembly of memories of facts and events that define an individual's biography. The neural mechanisms behind this state have not been fully elucidated, but it has been suggested that cortical midline structures (CMSs) are critically involved in processing self-related information. To date, the investigation of the involvement of CMSs in autobiographical-self processes has largely focused on the comparison between self and other in relation to one domain of information, personality traits, and has yielded conflicting results. Here, we investigated how activity in CMSs varies with (1) the target of the information (self versus an acquaintance), (2) the domain of information (personality traits versus facts), and (3) differences across individuals regarding how descriptive and how important/relevant the information targeted by the questions was, and regarding the amount of memory retrieved in order to answer the questions. We used an fMRI block-design in which 19 participants answered questions about traits and biographic facts, in relation to themselves and a distant acquaintance. In addition, the participants rated the descriptiveness and importance of the information targeted by the questions, and estimated the amount of memory retrieved to answer the questions. Our results showed that CMSs were active for both facts and traits and for both self and other, and that the level of activity in the posteromedial cortices was generally higher for other than for self. Moreover, the activity in CMSs also varied with the amount of memory retrieved to answer the questions and with descriptiveness and importance of the information. These findings suggest that involvement of CMSs during the evaluation of information is not specific for self, and depends on varied factors related to memory retrieval prompted by the questions and to processes required to answer them.

Dataset Information

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Publications

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Similar Datasets

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