MID1 mutations in patients with X-linked Opitz G/BBB syndrome.

MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Research Abstract Details 

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MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Abstract Text:

Mutations in the MID1 gene are responsible for the X-linked form of Opitz G/BBB syndrome (OS), a disorder that affects the development of midline structures. OS is characterized by hypertelorism, hypospadias, laryngo-tracheo-esophageal (LTE) abnormalities, and additional midline defects. Cardiac, anal, and neurological defects are also present. The expressivity of OS is highly variable, even within the same family. We reviewed all the MID1 mutations reported so far, in both familial and sporadic cases. The mutations are scattered along the entire length of the gene and consist of missense and nonsense mutations, insertions and deletions, either in-frame or causing frameshifts, and deletions of either single exons or the entire MID1 coding region. The variety of described mutations and the lack of a strict genotype-phenotype correlation confirm the previous suggestion of the OS phenotype being caused by a loss-of-function mechanism. However, although a specific mutation cannot entirely account for the observed phenotype, we observed preferential association between some types of mutation and specific clinical manifestations, e.g., brain anatomical defects and truncating mutations. This may suggest that the pathogenetic mechanism underlying the OS phenotype is more complex and may vary among the affected organs.

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MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Human mutation

VOLUME: 29

Page Numbers: 584-94

Journal Abbreviation: Hum. Mutat.

ISSN: 1098-1004

DAY: 21

MONTH: May

YEAR: 2008

MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 9215429

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Grant and Affiliation Information for MID1 mutations in patients with X-linked Opitz G/BBB syndrome.

AFFILIATION: Department of Pharmaceutical Sciences University of Salerno, Fisciano (SA), Italy.

Country: United States

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MEDLINETA: Hum Mutat

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