NF1 Microdeletion Syndrome

Last update 08 May 2025

Basic Info

Synonyms

17q11 deletion syndrome, 17q11 deletion syndrome (disorder), 17q11 microdeletion syndrome

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Introduction

17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.

100 Clinical Results associated with NF1 Microdeletion Syndrome

100 Translational Medicine associated with NF1 Microdeletion Syndrome

0 Patents (Medical) associated with NF1 Microdeletion Syndrome

Literatures (Medical) associated with NF1 Microdeletion Syndrome

01 Dec 2024·American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

Article

Author: Garzon, Jenny P. ; Patete, Andrea ; Aschbacher‐Smith, Lindsey ; Sawin, Michael ; Weisman, Allison Goetsch ; Hankins, Madison ; Drackley, Andy ; Charrow, Joel ; Weaver, K. Nicole ; Prada, Carlos E. ; Listernick, Robert ; Zeid, Janice ; Hopkin, Robert J. ; Kelly‐Mancuso, Geraldine ; Raski, Carolyn R. ; Qu'd, Dima ; Schorry, Elizabeth ; Simpson, Brittany N. ; Kim, Katherine ; Saal, Howard M.

AbstractNeurofibromatosis type 1 (NF‐1) microdeletion syndrome accounts for 5 to 11% of individuals with NF‐1. The aim of our study was to characterize a large cohort of individuals with NF‐1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF‐1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF‐1 microdeletion syndrome (28 type‐1, 4 type‐2, 2 type‐3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features, 25/57 (43.8%) with plexiform neurofibromas, and 3/57 (5.2%) with malignant peripheral nerve sheath tumors within the observed period. The most reported neurodevelopmental manifestations from school‐age or older individuals included 39/49 (79.6%) with developmental delays, 35/49 (71.4%) with expressive and/or receptive speech delays, 33/41 (80.5%) with learning difficulties, and 23/42 (54.8%) with attention‐deficit/hyperactivity disorder. Full‐scale IQ testing data was available for 22 individuals (range: 50–96). Of the 21 adults in this cohort, 14/21 (66.7%) graduated from high school, and 4/21 (19.0%) had some college experience. Many individuals received academic support (i.e., special education, individual education plan). In this cohort, neurocognitive outcomes in adults varied more than typically reported in the literature.

26 Nov 2024·Journal of Pediatric Endocrinology and Metabolism

Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital

Article

Author: Gopi, Sundarmoorthy ; Chhabra, Ankit ; Radha, Venkatesan ; Jayaram, Shruthi ; Kanthimathi, Sekar ; Mohan, Viswanathan ; Misgar, Raiz A. ; Masoodi, Shariq Rashid ; Qadir, Ajaz ; Jayaram, Shantala

AbstractObjectivesTo study the clinical and genotypic spectrum of patients with HNF-1ß deletions (MODY 5) at a tertiary care hospital.MethodsThis study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done. Dosage analysis of HNF 1B by Multiplex Ligand-dependent Probe Amplification (MLPA) was performed.ResultsThe mean age of patients was 22.25 years with a male-to-female ratio of 3:1. Associated phenotypic features included neurodevelopmental disorder in all four patients, insulin resistance in two patients (2/4) and alopecia in three patients (3/4). One patient had clinical and biochemical hyperandrogenism. All patients had renal malformations, and one patient had a Mullerian anomaly. Family history was present in 1 patient. All patients had pancreatic abnormalities, the most common type being dorsal agenesis of the pancreas (3/4), followed by annular pancreas (1/4). All patients had a genetic deletion of the gene HNF1B on chromosome 17 with a deletion interval of (?_37686431)_(37745059_?), (?_37687281)-(37744884_?), comprising exons 1 to 9.ConclusionsIt is imperative to maintain a high index of suspicion for MODY 5 in patients presenting with renal anomalies and diabetes, even in the absence of a family history. Early identification allows for screening family members and ensures a comprehensive approach to identifying and managing other abnormalities in these patients.

01 Jun 2024·Human Genetics

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes

Article

Author: Battaglia, Cristina ; Marasca, Federica ; Mangano, Eleonora ; Saletti, Veronica ; Bordoni, Roberta ; Bettinaglio, Paola ; Tritto, Viviana ; Ranzani, Valeria ; Riva, Paola ; Bodega, Beatrice ; Eoli, Marica ; Cesaretti, Claudia ; Natacci, Federica ; Castronovo, Chiara

AbstractNF1 microdeletion syndrome, accounting for 5–11% of NF1 patients, is caused by a deletion in the NF1 region and it is generally characterized by a severe phenotype. Although 70% of NF1 microdeletion patients presents the same 1.4 Mb type-I deletion, some patients may show additional clinical features. Therefore, the contribution of several pathogenic mechanisms, besides haploinsufficiency of some genes within the deletion interval, is expected and needs to be defined. We investigated an altered expression of deletion flanking genes by qPCR in patients with type-1 NF1 deletion, compared to healthy donors, possibly contributing to the clinical traits of NF1 microdeletion syndrome. In addition, the 1.4-Mb deletion leads to changes in the 3D chromatin structure in the 17q11.2 region. Specifically, this deletion alters DNA-DNA interactions in the regions flanking the breakpoints, as demonstrated by our 4C-seq analysis. This alteration likely causes position effect on the expression of deletion flanking genes.Interestingly, 4C-seq analysis revealed that in microdeletion patients, an interaction was established between the RHOT1 promoter and the SLC6A4 gene, which showed increased expression. We performed NGS on putative modifier genes, and identified two “likely pathogenic” rare variants in RAS pathway, possibly contributing to incidental phenotypic features.This study provides new insights into understanding the pathogenesis of NF1 microdeletion syndrome and suggests a novel pathomechanism that contributes to the expression phenotype in addition to haploinsufficiency of genes located within the deletion.This is a pivotal approach that can be applied to unravel microdeletion syndromes, improving precision medicine, prognosis and patients’ follow-up.

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