Molecular Genetics & Genomic Medicine has now published its next issue. Editor-in-Chief: Max Muenke introduces his editorial highlights: “Our fourth issue includes some great papers covering the areas of next-generation DNA sequencing for HEXA carrier screening, hemiplegic migraine and the CDC Hemophilia B mutation database. Highlights include the articles, Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations and Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.”
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations by Melanie G. Pepin, Ulrike Schwarze, Virendra Singh, Marc Romana, Altheia Jones-LeCointe and Peter H. Byers
Summary: LEPRE1 biallelic disease-causing mutations of 44 individuals are described as well as details of background sequences on which the identified mutations occurred. Carrier frequency and LEPRE1 allelic diversity of a Tobago population is reported, confirming a carrier frequency equal to African Americans and similar background sequence variation. The presence of LEPRE1 founder mutations on 7 of the 11 alleles identified in Tobago DNA sequence is consistent with early allele migration out of Africa with founder mutations following.
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis by Bernd Wollnik and colleages
Summary: Our results provide evidence for a crucial and conserved role of IL11RA during craniofacial development and suture formation. Impaired IL11RA function causes autosomal recessively inherited syndromic craniosynostosis. We propose an inhibitory effect of Il11ra within sutures, thereby preventing their premature fusion.
The journal also publishes invited commentaries. Below is the invited commentary from this issue:
From genetic counseling to “genomic counseling” by Kelly E. Ormond
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