Project description:Large Xq22.3 deletion in Czech family inherited from unaffaceted mother leading to manifestation of X-linked contiguous gene deletion syndrome known as Alport syndrome with intellectual disability (ATS-ID) or AMME complex (OMIM #300194)
Project description:Alport syndrome with intellectual disability (ATS-ID), also known as AMME complex (OMIM #300194), is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by haematuria, renal failure, hearing loss/deafness, ID/mental retardation (MR), midface hypoplasia and elliptocytosis. . It is thought that ATS-ID is caused by the loss of function of COL4A5 (ATS) and FACL4 (=ACSL4) (ID) through the interstitial (micro)deletion of chromosomal band Xq22.3. We report detailed phenotypic description and results from genome-wide profiling of Czech family with diagnosis ATS-ID (proband, maternal uncle and two female carriers).
Project description:Alport syndrome with intellectual disability (ATS-ID), also known as AMME complex (OMIM #300194), is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by haematuria, renal failure, hearing loss/deafness, ID/mental retardation (MR), midface hypoplasia and elliptocytosis. . It is thought that ATS-ID is caused by the loss of function of COL4A5 (ATS) and FACL4 (=ACSL4) (ID) through the interstitial (micro)deletion of chromosomal band Xq22.3. We report detailed phenotypic description and results from genome-wide profiling of Czech family with diagnosis ATS-ID (proband, maternal uncle and two female carriers).