Molecular Syndromology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
Conclusion:IQCE gene codes for a 695-amino acid protein located at the base of the primary cilia that positively regulates the Hedgehog signaling pathway. This case report represents the first description of a large deletion inIQCE and indicates that implementation of ExomeDepth in routine WES analysis can contribute valuable information toward elucidating the correct etiology of rare genetic diseases, increasing the diagnostic yield, and minimizing the need for additional tests.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 13, 2023 Category: Molecular Biology Source Type: research

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
We report this study to remind the clinicians to be aware of the parental transmission ofSMAD4 variations and also evaluate the parents of the Myhre cases.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 13, 2023 Category: Molecular Biology Source Type: research

Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report
Conclusion: There are several very different presentations including Leigh syndrome, epileptic encephalopathy, and cardiomyopathy. Some cases present following viral illness; this feature is not specific to mitochondrial complex II deficiency and occurs in many other mitochondrial disease presentations. There is no cure for complex II deficiency, though some reported patients showed clinical improvement following riboflavin therapy. Riboflavin is not the only therapeutic intervention that is available to patients with an isolated complex II deficiency and various other compounds have shown promise in the treatment of sympt...
Source: Molecular Syndromology - January 13, 2023 Category: Molecular Biology Source Type: research

The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T & #x3e;G Variant
Discussion: Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygousCOG5 c.95T#x3e;G variant.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 13, 2023 Category: Molecular Biology Source Type: research

Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature
We report a novel variant with a clinical diagnosis of severe OI, and this review will provide a comprehensive overview of previously published cases of OI type XV. With a better understanding of disorders associated withWNT1 mutations, therapies targeting Wnt1 signaling pathway may contribute therapeutic benefits.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 11, 2023 Category: Molecular Biology Source Type: research

Contents
Mol Syndromol 2022;13:I –VI (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 4, 2023 Category: Molecular Biology Source Type: research

Acknowledgement to Reviewers
Mol Syndromol 2022;13:551 –551 (Source: Molecular Syndromology)
Source: Molecular Syndromology - January 4, 2023 Category: Molecular Biology Source Type: research

Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review
Conclusion: We provide an overview of the available literature onUSP9X variants in males, in order to further expand the genotypic and phenotypic landscape of male-restricted X-linked mental retardation syndrome. Our findings confirm the involvement ofUSP9X variants in neuronal development and corroborate the possible association between the novelUSP9X variant and congenital heart malformation.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 23, 2022 Category: Molecular Biology Source Type: research

Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome
Discussion: We suggest that the presence of bilateral fibular agenesis and the apparent image of preaxial polydactyly of the feet on prenatal ultrasound should alert suspicion to Du Pan syndrome, with the latter possibly being a sonographic pitfall. Alongside the fetal imaging, a detailed clinical examination of the expectant parents is also of great importance in establishing a preliminary diagnosis of Du Pan syndrome, as well as the other GDF5-BMPR1B-associated chondrodysplasias.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - December 23, 2022 Category: Molecular Biology Source Type: research

First Report of Mexican Patients with PACS1 -Related Neurodevelopmental Disorder and Review of the PACS1 -, PACS2 -, and WDR37 -Related Ophthalmological Manifestations
Discussion: We reviewed the ocular phenotypes reported in 74 individuals withPACS1-related NDD and the overlaps withWDR37- andPACS2-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals withPACS1-related NDD andWDR37 syndrome, being more severe in the latter. This supports the previous statement that the so-calledWDR37-PACS1-PACS2 axis might have an important role in ocular development and also that the specific ocular findings could be useful i...
Source: Molecular Syndromology - December 16, 2022 Category: Molecular Biology Source Type: research

Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society
Research focused on Down syndrome continued to gain momentum in the last several years and is advancing our understanding of how trisomy 21 (T21) modifies molecular and cellular processes. The Trisomy 21 Research Society (T21RS) is the premier scientific organization for researchers and clinicians studying Down syndrome. During the COVID pandemic, T21RS held its first virtual conference program, sponsored by the University of California at Irvine, on June 8 –10, 2021 and brought together 342 scientists, families, and industry representatives from over 25 countries to share the latest discoveries on underlying cellular an...
Source: Molecular Syndromology - November 11, 2022 Category: Molecular Biology Source Type: research

A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3
Conclusion: Copy number variations should be considered in patients with coexisting clinical expression of different genetic alterations. To the best of our knowledge, our patient is the second case with co-occurrence of trichothiodystrophy type 4 and glutaric aciduria type 3, resulting from a contiguous gene deletion.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - November 10, 2022 Category: Molecular Biology Source Type: research

Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case
Discussion: p.(Val6Gly) variation inPRDM5 was previously reported in 2 patients with BCS. We also consideredPRDM5 c.17T#x3e;G, p.(Val6Gly) variation as pathogenic based on the following features: the absence of the variation in population databases, in silico predictions, segregation analysis, and clinical signs of our patient. Extremely thin and brittle corneas lead to corneal perforation spontaneously or after minor trauma. Nearly all patients have lost their vision because of corneal rupture and scars. The key challenge in the management of BCS is the prevention of ocular rupture which relies on early diagnosis. Early d...
Source: Molecular Syndromology - November 7, 2022 Category: Molecular Biology Source Type: research

Expanded Phenotypic Spectrum or Multiple Syndromes?
Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - October 28, 2022 Category: Molecular Biology Source Type: research

Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate
Conclusion: Besides the frequently described symptoms (developmental delay, intellectual disability, skeletal abnormalities, short stature, and dysmorphic facial features) shared by the patients with interstitial deletions of chromosome 9q reported thus far, two of our patients showed distinct forms of epilepsy, which were successfully treated, and one had a bilateral cleft lip and palate. Possible candidate genes for epilepsy and cleft lip and palate are discussed.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - October 27, 2022 Category: Molecular Biology Source Type: research