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3 Possible Causes for Mutation in the RBBP8 Gene

  • Seckel Syndrome

    Inherited in an autosomal recessive pattern, SS occurs through a mutation of one of the several genes, such as the retinoblastoma binding protein 8 (RBBP8) and centromere[symptoma.com] Some of the genes that are mutated and cause Seckel syndrome are CEP152 (SCKL5) , NINI (SCKL7) , CEP63 (SCKL6) , RBBP8 (SCKL2) , ATRIP (SCKL8) , and ATR (SCKL1).[medindia.net] Some of the genes that are mutated and cause Seckel syndrome are CEP152 (SCKL5), NINI (SCKL7), CEP63 (SCKL6), RBBP8 (SCKL2), ATRIP (SCKL8), and ATR (SCKL1).[medindia.net]

  • FLOTCH Syndrome

    ( OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 ( OMIM ), related to mutation in the PALLD gene on chromosome 4q32 ( OMIM ); PNCA2 ( OMIM ), related[mendelian.co] CancerSomatic mutations in pancreatic cancer occur in the KRAS ( OMIM ), CDKN2A ( OMIM ), MADH4 ( OMIM ), TP53 ( OMIM ), ARMET ( OMIM ), STK11 ( OMIM ), ACVR1B ( OMIM ), and RBBP8[mendelian.co]

  • Microcephalic Primordial Dwarfism Type Alazami

    RBBP8 mutations have also been implicated in Jawad syndrome [OMIM#251255], which has clinical overlap with Seckel syndrome.[studyres.com] , including ATR,, CEP63, CEP152, CENPJ, RBBP8 and NIN have been reported to cause Seckel syndrome in a small number of families  A homozygous synonymous mutation in ATR [[studyres.com] The RBBP8 protein (also known as CtIP) is involved in the process of DNA double-strand break repair (10).  Compound heterozygous missense mutations have been identified in[studyres.com]

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