Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome

Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research

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CONCLUSIONS: Patients with 22q11.2DS are medically complex and are at increased risk of OSA at baseline. Wide PPF surgery for severe VPD does not significantly increase risk of OSA. Careful perioperative planning is essential to optimize both speech and sleep outcomes. PMID: 31973553 [PubMed - as supplied by publisher]
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Peer support. Engaging exchanges on velopharyngeal surgery. Access to timely resources. SIG 5 offers all that and more. What would you say to encourage other colleagues to join SIG 5? Angela Dixon: For much of my career I was the only SLP in my state who specialized in cleft/craniofacial disorders. That was a lot of pressure and can be very isolating. It was difficult to not have an easy team of SLPs to learn from, bounce ideas off, etc. Joining SIG 5 provided that for me. I met a group of SLPs who had passions similar to mine, and SIG 5 allowed me an opportunity to network, learn, grow, and eventually even make friends. M...
Source: American Speech-Language-Hearing Association (ASHA) Press Releases - Category: Speech-Language Pathology Authors: Tags: Academia & Research Health Care Slider Speech-Language Pathology communication sciences and disorders craniofacial craniofacial disorders Speech Disorders Source Type: blogs
ConclusionThe expression ofTBX1, which seems to confer the major phenotypic features of 22q11.2DS, is regulated via retinoic acid signaling, and alterations in retinoic acid signaling during embryonic development can lead to phenocopies of 22q11.2DS. These observations support the hypothesis that genetic modifiers outside the microdeletion locus may influence the immune function in 22q11.2DS patients.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract OBJECTIVE: The purpose of this study was to analyze the relationship between cranial base, cerebellar, craniofacial, and velopharyngeal (VP) variables in individuals with 22q11.2 deletion syndrome (22q11DS). METHODS: Thirteen typically developing healthy children and 13 age- and sex-matched individuals with 22q11DS completed a magnetic resonance imaging scan, which was used to examine craniofacial and VP variables. RESULTS: A statistically significant difference was noted in cerebellum volumes, F 1,24 = 7.947, P = .010, posterior nasal spine to posterior pharyngeal wall (PNS-PPW), F 1,24 = 4.878...
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Abstract PURPOSE: To investigate the dimensions of the tensor veli palatini (TVP) muscle using high image resolution 3-dimensional magnetic resonance imaging (MRI) of the soft palate among children with normal velopharyngeal and craniofacial anatomy and to compare values to individuals with a diagnosis of 22q11.2 deletion syndrome (22q11DS). We also sought to determine whether there is a relationship between hypoplasia of the TVP and severity of middle ear dysfunction and hearing loss. METHODS: Three-dimensional MRI were used to collect and analyze data obtained across 53 children between 4 and 12 years of ag...
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Abstract OBJECTIVE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic cause of velopharyngeal dysfunction; however, limited information exists regarding variations in velopharyngeal anatomy in this clinically challenging population. The purpose of this study was to examine velopharyngeal characteristics among young children with 22q11.2DS in comparison to a normative cohort using an innovative, nonsedated magnetic resonance imaging (MRI) scanning protocol. METHODS: Fifteen children with 22q11.2DS and 15 age- and gender-matched controls with normal velopharyngeal anatomy (ages 4-12) successf...
Source: The Cleft Palate-Craniofacial Journal - Category: ENT & OMF Authors: Tags: Cleft Palate Craniofac J Source Type: research
Alexandra Mills†, Elizabeth Bearce†, Rachael Cella, Seung Woo Kim, Megan Selig, Sangmook Lee and Laura Anne Lowery* Biology Department, Boston College, Chestnut Hill, MA, United States Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from a hemizygous perturbation, typically a microdeletion, on the short arm of chromosome four. In addition to pronounced intellectual disability, seizures, and delayed growth, WHS presents with a characteristic facial dysmorphism and varying prevalence of microcephaly, micrognathia, cartilage malformation in the ear and nose, and facial asymmetr...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
In this report, we detected a 5.8-Mb deletion encompassing the chromosome 1q42.12q42.2 region in a 4-year-old boy with hypoplastic corpus callosum, epilepsy, developmental delay, microcephaly, cata ract, cleft palate, and skeletal changes. The deletion was de novo. Genotype-phenotype correlations suggest that the major features of 1q42.12q42.2 microdeletion were attributed to the genes with a high probability of loss-of-function intolerance score in this deletion, namelyLBR, ENAH, ACBD3, LIN9, ITPKB, CDC42BPA, ARF1, TAF5L, GALNT2, SPRTN, andEGLN1along with GNPAT.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
We report a novel 9q31.2q32 (chr9: 109195179 ‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed puberty, sensorineural hearing loss, and mild developmental delay. Overlapping microdeletions reported in this region also demonstrate facial dysmorphism, skeletal anomalies, cleft palate, and cardiac valvular abnormalities. In comparing these cases, we suggest critical region of chr9: 109711873‐113407621 (hg 18). Key Clinical MessageWe report a novel 9q31.2q32 (chr9: 109195179 ‐113974353, hg 18) microdeletion characterized by fatigue, muscle cramps, short stature, delayed pube...
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research
Conclusions: All patients had normal RP or mild OSA before PPF, and the prevalence of OSA (AHI> 5/h) after PPF was low (n=2, 10%). The 2 patients with OSA had overt clinical symptoms.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Sleep and control of breathing Source Type: research
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