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- W2098036819 abstract "SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. Common features in these subjects include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions may depend on the location of the deletion and, consequently, which of the three major SOX5 protein isoforms are affected. One intragenic deletion, involving only untranslated exons, was present in a more mildly affected subject, was inherited from a healthy parent and grandparent, and is similar to a deletion found in a control cohort. Therefore, some intragenic SOX5 deletions may have minimal phenotypic effect. Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage-sensitive, developmentally important gene." @default.
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- W2098036819 date "2012-03-12" @default.
- W2098036819 modified "2023-10-01" @default.
- W2098036819 title "Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features" @default.
- W2098036819 cites W1568321676 @default.
- W2098036819 cites W1964154232 @default.
- W2098036819 cites W1972012838 @default.
- W2098036819 cites W1976172452 @default.
- W2098036819 cites W1976905805 @default.
- W2098036819 cites W1978715316 @default.
- W2098036819 cites W1985142231 @default.
- W2098036819 cites W1985705162 @default.
- W2098036819 cites W1990609264 @default.
- W2098036819 cites W2008446184 @default.
- W2098036819 cites W2013024059 @default.
- W2098036819 cites W2013258764 @default.
- W2098036819 cites W2020509541 @default.
- W2098036819 cites W2022936129 @default.
- W2098036819 cites W2025026665 @default.
- W2098036819 cites W2027254803 @default.
- W2098036819 cites W2030508781 @default.
- W2098036819 cites W2031883301 @default.
- W2098036819 cites W2032736838 @default.
- W2098036819 cites W2039531029 @default.
- W2098036819 cites W2045969952 @default.
- W2098036819 cites W2054949346 @default.
- W2098036819 cites W2055043387 @default.
- W2098036819 cites W2059173951 @default.
- W2098036819 cites W2061039475 @default.
- W2098036819 cites W2080548729 @default.
- W2098036819 cites W2083882414 @default.
- W2098036819 cites W2086730923 @default.
- W2098036819 cites W2087355318 @default.
- W2098036819 cites W2098302627 @default.
- W2098036819 cites W2099961908 @default.
- W2098036819 cites W2102043876 @default.
- W2098036819 cites W2102047286 @default.
- W2098036819 cites W2102304447 @default.
- W2098036819 cites W2103302926 @default.
- W2098036819 cites W2103441770 @default.
- W2098036819 cites W2106650442 @default.
- W2098036819 cites W2108234281 @default.
- W2098036819 cites W2116167198 @default.
- W2098036819 cites W2118535181 @default.
- W2098036819 cites W2134256373 @default.
- W2098036819 cites W2141307855 @default.
- W2098036819 cites W2142701631 @default.
- W2098036819 cites W2151899084 @default.
- W2098036819 cites W2153170275 @default.
- W2098036819 cites W2155925153 @default.
- W2098036819 cites W2161681137 @default.
- W2098036819 cites W2162316859 @default.
- W2098036819 cites W2167804386 @default.
- W2098036819 cites W4253861313 @default.