Orofacial clefts (OFCs) are the most common craniofacial congenital anomalies, and its prevalence is highest among Asian populations. The aim of this retrospective case-control study is to evaluate the effect of parental consanguinity on the frequency of OFCs at Jordan University Hospital over a 15-year-period. The study group consists of all patients with OFCs presented to the major tertiary referral center in Jordan during the last 15 years, along with age and gender-matched controls. The authors analyzed the risk of different predictors, including consanguinity, on the development of OFCs, both cleft lip with or without cleft palate (CL/P) and cleft palate only. A total of 332 participants were included in this study, with a mean age of 74.36 (±48.75) months. The authors included 129 (38.9%) OFCs, and 203 (61.1%) controls. The percentage of parental consanguinity among OFCs group was 41.1%, compared to only 24.1% for controls, a difference that was statistically significant (P = 0.001). On logistic regression analysis, the authors found that parental consanguinity is a significant predictor for the occurrence of OFCs (P = 0.007), where people with consanguineous marriage have 2 times higher risk (odds ratio of 0.504, with 95% confidence interval 0.306-0.830) to have offspring with OFCs. Moreover, lower birth weight babies are also significantly more associated with OFCs (P = 0.014), with an odds ratio of 1.819 (95% confidence interval 1.131 2.926). Among the Jordanian population, the authors found that consanguinity and lower birth weight were the only variables significantly associated with the development of OFCs.
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http://dx.doi.org/10.1097/SCS.0000000000008294 | DOI Listing |
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFNeurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFEur J Pediatr
January 2025
Pediatric Hematology and Oncology, Liv Hospital, Gaziantep, Turkey.
Unlabelled: Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files.
View Article and Find Full Text PDFJ Endocr Soc
January 2025
Division of Pediatric Endocrinology, Hadassah Medical Center, Jerusalem 91240, Israel.
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.
Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.
Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.
NPJ Genom Med
January 2025
3billion, Inc., Seoul, South Korea.
We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. The overall diagnostic rate was 31.
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