Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

This study supports a genetic etiology for LBWC/ABS, or potentially a new syndrome.

We present the first genetic characterization of an individual who has elements of both limb body wall complex (LBWC) and amniotic band sequence (ABS), but may also be a new syndrome. Both LBWC and ABS do not have a known genetic etiology, and there has been much debate on whether these two conditions are the same or separate entities. Using whole exome sequencing, we have found a genetic mutation in the gene IQ motif containing K (IQCK), which has not been previously reported in the medical literature. Using functional studies in the zebrafish, we have confirmed IQCK as the causative gene.

Source: Molecular Genetics & Genomic Medicine - March 1, 2015 Category: Genetics & Stem Cells Authors: Paul Kruszka, Annette Uwineza, Leon Mutesa, Ariel F. Martinez, Yu Abe, Elaine H. Zackai, Rebecca Ganetzky, Brian Chung, Roger E. Stevenson, Robert S. Adelstein, Xuefei Ma, James C. Mullikin, , Sung‐Kook Hong, Maximilian Muenke Tags: Original Article Source Type: research