Phenotypic variability in Muenke syndrome—observations from five Danish families

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

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Faculty Opinions recommendation of Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.722711816.793509186 ◽

2015 ◽

Author(s):

Joseph Shaker

Keyword(s):

Osteogenesis Imperfecta ◽

Phenotypic Variability ◽

Osteogenesis Imperfecta Type ◽

Type V

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Formation and composition of training flax collection

Genetičnì resursi roslin (Plant Genetic Resources) ◽

10.36814/pgr.2020.26.06 ◽

2020 ◽

pp. 61-71

Author(s):

L.M. Kryvosheieva ◽

V.I. Chuchvaha ◽

N.M. Kandyba

Keyword(s):

Plant Breeding ◽

Gene Pool ◽

Phenotypic Variability ◽

Plant Genetic Resources ◽

Field Measurements ◽

Educational Process ◽

Educational Institutions ◽

Economic Traits ◽

Wide Range ◽

History Of

Aim. Based on the results of multi-year research into the flax gene pool, to form a flax training collection to provide breeding scientific organizations and educational institutions with collection samples as well as with information about the bast crop gene pool. Results and Discussion. The studies were conducted in the crop rotation fields for breeding and seed production of the Institute of Bast Crops of the NAAS (Hlukhiv, Sumska Oblast) in 1992-2018. The field measurements and laboratory analyses were carried out in accordance with conventional methods of field and laboratory studies of collection flax samples.The article presents the results on the formation of a training collection of flax at the Institute of Bast Crops of the NAAS, which has 117 accessions (11 botanical species and three varieties) from 22 countries. In addition to species diversity, the collection includes accessions with different levels of expression of valuable economic and biological characteristics. It also includes accessions selected by phenotypic variability of individual characters or their combinations. The multi-year research into the flax collection accessions resulted in identification of sources of highly-expressed valuable economic traits, which are of interest for the plant breeding course. The history of flax breeding in Ukraine is shown, where breeding varieties that are most widespread or were significant breeding achievements in solving certain problems, are presented. The collection can be used as a visual aid for the plant breeding course in educational programs; in addition, it can provide starting material for scientific and educational institutions. The collection is registered with the National Center for Plant Genetic Resources of Ukraine (certificate No. 00273 dated 04/11/2019). Conclusions. The studies of accessions from the national flax collection allowed us to build up a training collection and register it with the NCPGRU. The collection represents a wide range of biological and economic features of the gene pool of this crop. The collection can be used in the educational process of educational agricultural and biological institutions. The multi-year research into the national flax collection resulted in identification of sources of highly-expressed valuable economic traits, which are of interest to the plant breeding course. The history of flax breeding in Ukraine got covered, and breeding varieties that are most widespread or were significant breeding achievements in solving certain problems are presented.

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Unlocking the Patterns of the Tunisian Durum Wheat Landraces Genetic Structure Based on Phenotypic Characterization in Relation to Farmer’s Vernacular Name

Agronomy ◽

10.3390/agronomy11040634 ◽

2021 ◽

Vol 11 (4) ◽

pp. 634

Author(s):

Cyrine Robbana ◽

Zakaria Kehel ◽

Karim Ammar ◽

Carlos Guzmán ◽

M’Barek Ben Naceur ◽

...

Keyword(s):

Genetic Structure ◽

Durum Wheat ◽

Smallholder Farmers ◽

Phenotypic Variability ◽

Phenotypic Characterization ◽

Ecological Niches ◽

Dry Conditions ◽

New Gene ◽

Wheat Landraces ◽

Durum Wheat Landraces

During the 1970s, Tunisian durum wheat landraces were replaced progressively by modern cultivars. These landraces are nowadays maintained by smallholder farmers in some ecological niches and are threatened gradually by extinction resulting in the narrowing of the genetic diversity. This study aims to investigate patterns of phenotypic variability using twelve quantitative traits in a panel of 189 durum wheat landraces and seven checks, based on farmer’s population name attribution and genetic structure. Our results showed high phenotypic variability among and within landraces and checks for ten out of twelve studied traits. The principal components analysis showed similar grouping using farmers name attribution and genetic structure using K = 6. These results confirmed the identification of a new gene pool in the oases of Tunisia, represented by the sub-population Jenah Zarzoura and the robustness and high relationships between phenotypic and genome-wide genetic structure using DArTseq method. These findings will enhance the conservation efforts of these landraces and their use in breeding efforts at national and international levels to adapt to dry conditions.

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