Broadening the PHIP -Associated Neurodevelopmental Phenotype.
Background: Monoallelic damaging variants in PHIP (MIM*612870), encoding the Pleckstrin Homology Domain Interacting Protein, have been associated with a novel neurodevelopmental disorder, also termed Chung–Jansen syndrome (CHUJANS, MIM#617991). Most of the described individuals show developmental de...
| Publicado en: | Children Vol. 11; no. 11; pp. 1395 - 1404 |
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| Autores principales: | , , , , , |
| Formato: | case study pictorial tables/charts Journal Article |
| Publicado: |
MDPI
Nov2024
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=181163054&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 181163054 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 22279067 LW6K jtl: Children issn: 22279067 maglogo: N pubinfo: dt: Nov2024 vid: 11 iid: 11 pid: 97109 pub: MDPI artinfo: ui: 181163054 181163054 181163054 10.3390/children11111395 181163054 ppf: 1395 ppct: 9 formats: tig: atl: Broadening the PHIP -Associated Neurodevelopmental Phenotype. aug: au: Pascolini, Giulia Scaglione, Giovanni Luca Chandramouli, Balasubramanian Castiglia, Daniele Di Zenzo, Giovanni Didona, Biagio affil: Genetic Counselling Unit, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy sug: subj: Chromosome Disorders Developmental Disabilities Intellectual Disability Abnormalities, Multiple Diagnosis Male Child Obesity Genome Sequence Analysis Genetic Techniques Proteins Metabolism Bioinformatics Child: 6-12 years Male ab: Background: Monoallelic damaging variants in PHIP (MIM*612870), encoding the Pleckstrin Homology Domain Interacting Protein, have been associated with a novel neurodevelopmental disorder, also termed Chung–Jansen syndrome (CHUJANS, MIM#617991). Most of the described individuals show developmental delay (DD)/intellectual disability (ID), obesity/overweight, and variable congenital anomalies, so the condition can be considered as an ID–overweight syndrome. Case Description: We evaluated a child presenting with DD/ID and a craniofacial phenotype reminiscent of a Pitt–Hopkins syndrome (PTHS)-like condition. We performed a clinical exome analysis on his biological sample, as well as an in silico prediction of the obtained data. At the same time, we interrogated the DeepGestalt technology powered by Face2Gene (F2G), using a frontal image of the proband, and clinically reviewed the earlier CHUJANS patients. In this child, we found a novel PHIP pathogenetic variant, which we corroborated through a protein modeling approach. The F2G platform supported the initial clinical hypothesis of a PTHS-like condition, while the clinical review highlighted the lack of the main frequent CHUJANS clinical features in this child. Conclusions: The unusual clinical presentation of this novel patient resembles a PTHS-like condition. However, a novel variant in PHIP has been unexpectedly detected, expanding the phenotypic spectrum of CHUJANS. Notably, PTHS (MIM#610954), which is a different ID syndrome caused by heterozygous variants in TCF4 (MIM*610954), is not classically considered in the differential diagnosis of CHUJANS nor has been cited in the previous studies. This could support other complex diagnoses and invite further patients' descriptions. pubtype: Academic Journal doctype: case study pictorial tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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