28
Dec

BPTF gene mutation 17q24.2 deletion – microcephaly, developmental and speech delay

Chromatin remodeling is essential for DNA accessibility and gene regulation, and its disruption leads to a variety of disorders. The protein complex NURF (nucleosome remodeling factor) involved in chromatin remodeling is important in regulating fetal development. NURF contains the proteins SNF2L, pRBAP46/48, and BPTF. BPTF, in particular, is expressed throughout the body. The BPTF gene...
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02
Nov

Chromosome 1q42 deletion and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a cancer syndrome that is caused by mutations in the FH gene in 90% of cases. In the other 10% of cases, the genetic cause is unknown. Here, the authors examined 28 patients from 13 families where no point mutation in FH has been found. These persons...
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02
Nov

Atypical Chromosome X-inactivation

In females, because there are 2 X chromosomes, one of them undergoes a phenomenon of X-inactivation where it becomes silenced and is not expressed. The chromosome that becomes silenced in each cell is usually random. However, when a translocation involving the X chromosome occurs, the structurally abnormal X chromosome is usually preferentially inactivated. If, due...
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01
Nov

Potocki-Lupski Syndrome (PTLS)

Potocki-Lupski Syndrome (PTLS) is a disorder caused by a duplication of the 17p11.2 region of chromosome 17, including the RAI1 (Retinoic acid-induced protein 1) gene. Duplication of the RAI1 gene in particular is thought to be the key contributor to the symptoms of this disorder. These symptoms are vast and include cognitive, behavioral, and medical...
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01
Nov

Chromosome 10p15.3 deletion and neurological symptoms

Chromosome 10p15.3 is the most distal segment of 10p. The deletions within this area are characterized by developmental delay, motor skill delay, speech disorders, brain abnormalities, and seizures. Two genes within this region – ZMYND11 and DIP2C – are commonly deleted due to this condition, and loss of these is thought to contribute to some...
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