Molecular Genetics & Genomic Medicine has now published its next issue. Editor-in-Chief: Max Muenke introduces his editorial highlights: “This issue includes an Invited Commentary on newborn screening, along with articles on association of the GPR88 gene and major psychoses and TNNT1 mutations in nemaline myopathy. It also features the first article in our series Genetics and Genomic Medicine around the World, this month focusing on Israel. Highlights of the issue include ‘Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia’ and ‘Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations’.
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia by Anas M. Alazami, Mohammed Zain Seidahmed, Fatema Alzahrani, Adam O. Mohammed and Fowzan S. Alkuraya. Abstract: Cranioectodermal dysplasia (CED) is a very rare autosomal recessive disorder characterized by a recognizable craniofacial profile in addition to ectodermal manifestations involving the skin, hair, and teeth. Four genes are known to be mutated in this disorder, all involved in the ciliary intraflagellar transport confirming that CED is a ciliopathy. In a multiplex consanguineous family with typical CED features in addition to intellectual disability and severe cutis laxa, we used autozygosity-guided candidate gene analysis to identify a novel homozygous mutation in IFT122, and demonstrated impaired ciliogenesis in patient fibroblasts. This report on IFT122 broadens the phenotype of CED and expands its allelic heterogeneity.
Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations by Tian Yang, Zhonglin Jia, Whitney Bryant-Pike, Anand Chandrasekhar, Jeffrey C. Murray, Bernd Fritzsch and Alexander G. Bassuk. Abstract: Palate development is shaped by multiple molecular signaling pathways, including the Wnt pathway. In mice and humans, mutations in both the canonical and noncanonical arms of the Wnt pathway manifest as cleft palate, one of the most common human birth defects. Our results reveal that in mice and humans PRICKLE1 directs palate morphogenesis; our results also uncouple Prickle1 function from Vangl2 function. Together, these findings suggest mouse and human palate development is guided by PCP-Prickle1 signaling that is probably not downstream of Vangl2.
The journal also publishes Genetics and Genomic Medicine around the World. Below is the first article of this type, this month focusing on Israel.
“Genetics and genomic medicine in Israel” by Joël Zlotogora
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