Ask about this productRelated genes to: ZNF699 Blocking Peptide
- Gene:
- ZNF699 NIH gene
- Name:
- zinc finger protein 699
- Previous symbol:
- -
- Synonyms:
- FLJ38144, hang
- Chromosome:
- 19p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-08-11
- Date modifiied:
- 2014-11-18
Related products to: ZNF699 Blocking Peptide
Related articles to: ZNF699 Blocking Peptide
- BACKGROUND DEGCAGS syndrome is an exceptionally rare genetic disorder caused by mutations in the ZNF699 gene. It presents with a broad spectrum of clinical features, including neurodevelopmental delays and dysfunction or anomalies affecting the gastrointestinal, cardiovascular, genitourinary, and skeletal systems. Although these features have been described in the literature, reports of airway complications remain exceedingly rare. This report describes the case of a 1-year-old infant with a confirmed diagnosis of DEGCAGS syndrome who presented with progressive stridor and respiratory distress. CASE REPORT A 1-year-old girl with DEGCAGS syndrome (confirmed by ZNF699 mutation via whole-exome sequencing) presented with progressive stridor, hoarseness, respiratory distress, and feeding difficulties since birth. Despite prior suspicion of congenital laryngomalacia, her symptoms persisted. Clinical evaluation revealed microcephaly, coarse facial features, oropharyngeal masses, and developmental delay. Computed tomography and magnetic resonance imaging identified a nasopharyngeal soft-tissue mass and vocal cord edema. Fiberoptic nasopharyngoscopy demonstrated bilateral vocal cord dysfunction and laryngomalacia. Surgical resection of nasopharyngeal and tongue-base masses with supraglottoplasty was performed. Histopathology confirmed hamartomas. Postoperatively, the patient required transient ICU support but achieved stable respiration and normal feeding by discharge. Follow-up at 2 months revealed no recurrence or functional deficits. CONCLUSIONS To the best of our knowledge, this is the first documented case of multiple laryngeal hamartomas in a patient with DEGCAGS syndrome. This case emphasizes the need for heightened clinical vigilance in recognizing rare complications in genetic disorders and underscores the importance of a multidisciplinary approach to diagnosis and management. - Source: PubMed
Publication date: 2025/11/08
Duan HongfangChen ChenXu GuoYao TingtingMa XiangyuZhang Delun - Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathognomonic clinical findings. We collected data on 30 affected individuals (12 new). GestaltMatcher analyzed fifty-three facial photographs from five individuals. In nine individuals, methylation profiling of blood-DNA was performed, and a classification model was constructed to differentiate DEGCAGS from controls. We expand the ZNF699-related molecular spectrum and show that biallelic, LoF, ZNF699 variants cause unique clinical findings with age-related presentation and a similar facial gestalt. We also identified a robust episignature for DEGCAGS syndrome. DEGCAGS syndrome is a clinically variable recessive syndrome even among siblings with a distinct methylation episignature which can be used as a screening, diagnostic and classification tool for ZNF699 variants. Analysis of differentially methylated regions suggested an effect on genes potentially implicated in the syndrome's pathogenesis. - Source: PubMed
Publication date: 2024/10/19
Karimi KarimWeis DenisaAukrust IngvildHsieh Tzung-ChienHorackova MariePaulsen JulieMendoza Londono RobertoDupuis LucieDickson MeganLesman HellenLau TracyMurphy DavidHama Salih KhalidAl-Musawi Bassam M SAl-Obaidi Ruqayah G YRydzanicz MalgorzataBiela MateusSantos Mafalda SaraivaAldeeri AbdulrahmanGazda Hanna TPais LynnShril ShirleeDøllner HenrikBartakke SandipLaccone FrancoSoltysova AndreaKitzler ThomasSoliman Neveen ARelator RaissaLevy Michael AKerkhof JenniferRzasa JessicaHoulden HenryPilshofer Gabriela VJobst-Schwan TilmanHildebrandt FriedhelmSousa Sergio BMaroofian RezaYu Timothy WKrawitz PeterSadikovic BekimDouzgou Houge Sofia - To describe clinical and ocular abnormalities in a case of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities (DEGCAGS syndrome). - Source: PubMed
Publication date: 2023/11/28
Ali Syed MAlMasri Dua APrada Carlos ELin DorisBosley Thomas MKozak Igor - Until 2021, the gene was not associated with any human genetic disease. There were only two studies exploring the associations between variants in and alcohol dependence. In 2021 Bertoli-Avella et al. reported 13 patients with a gene mutation. All patients presented global developmental delay and with systemic manifestations. A new phenotype was proposed and called DEGCAGS syndrome (OMIM 619488) (developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities). The DEGCAGS syndrome is inherited in the autosomal recessive mode. Here, we report a new case (14th up to date) of a patient with gene mutation, whose symptoms and dysmorphic features were similar to those presented by Bertoli-Avella et al. In addition, we have analyzed the frequency of occurrence of particular symptoms in the patients described so far. - Source: PubMed
Publication date: 2022/01/18
Biela MateuszRydzanicz MalgorzataJankowska AgnieszkaSzlagatys-Sidorkiewicz AgnieszkaRozensztrauch AnnaPłoski RafałSmigiel Robert - Within this study, we aimed to discover novel gene-disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). - Source: PubMed
Publication date: 2021/04/19
Bertoli-Avella Aida MKandaswamy Krishna KKhan SulimanOrdonez-Herrera NataliaTripolszki KorneliaBeetz ChristianRocha Maria EugeniaUrzi AlizeHotakainen RonjaLeubauer AnikaAl-Ali RuslanKarageorgou VasilikiMoldovan OanaDias PatríciaAlhashem AmalTabarki BrahimAlbalwi Mohammed AAlswaid Abdulrahman FaizAl-Hassnan Zuhair NAlghamdi Malak AliHadipour ZahraHadipour FatemehAl Hashmi NadiaAl-Gazali LihadhCheema HumaZaki Maha SHüning IrinaAlfares AhmedEyaid WafaaAl Mutairi FuadAlfadhel MajidAlkuraya Fowzan SAl-Sannaa Nouriya AbbasAlShamsi Aisha MAmeziane NajimRolfs ArndtBauer Peter