9q22.3 Microdeletion

Last update 01 Nov 2024

Basic Info

Synonyms

9q22 Deletion Syndrome, 9q22.3 Deletion, 9q22.3 Microdeletion

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Introduction

Syndrome associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

100 Clinical Results associated with 9q22.3 Microdeletion

100 Translational Medicine associated with 9q22.3 Microdeletion

0 Patents (Medical) associated with 9q22.3 Microdeletion

Literatures (Medical) associated with 9q22.3 Microdeletion

01 Feb 2020·European Journal of EndocrinologyQ1 · MEDICINE

Genetic investigation of patients with tall stature

Q1 · MEDICINE

Article

Author: Malaquias, Alexsandra Christianne ; Ae Kim, Chong ; Soares Jallad, Raquel ; Victorino Krepischi, Ana Cristina ; Ferreira de Assis Funari, Mariana ; Homma, Thaís Kataoka ; Brito, Vinicius Nahime ; Jorge, Alexander Augusto de Lima ; Rosenberg, Carla ; Lerario, Antonio Marcondes ; Vasco de Albuquerque Albuquerque, Edoarda ; Arnhold, Ivo Jorge Prado ; Sayuri Honjo Kawahira, Rachel ; Martin, Regina Matsunaga ; Pereira de Souza Quedas, Elisângela

ContextPatients with tall stature often remain undiagnosed after clinical investigation and few studies have genetically assessed this group, most of them without a systematic approach.ObjectiveTo assess prospectively a group of individuals with tall stature, with and without syndromic features, and to establish a molecular diagnosis for their growth disorder.DesignScreening by karyotype (n = 42), chromosome microarray analyses (CMA) (n = 16), MS-MLPA (n = 2) targeted panel (n = 12) and whole-exome sequencing (n = 31).Patients and methodsWe selected 42 patients with tall stature after exclusion of pathologies in GH/IGF1 axis and divided them into syndromic (n = 30) and non-syndromic (n = 12) subgroups.Main outcome measuresFrequencies of pathogenic findings.ResultsWe identified two patients with chromosomal abnormalities including SHOX trisomy by karyotype, one 9q22.3 microdeletion syndrome by CMA, two cases of Beckwith–Wiedemann syndrome by targeted MS-MLPA analysis and nine cases with heterozygous pathogenic or likely pathogenic genetic variants by multigene analysis techniques (FBN1 = 3, NSD1 = 2, NFIX = 1, SUZ12 = 1, CHD8 = 1, MC4R = 1). Three of 20 patients analyzed by WES had their diagnosis established. Only one non-syndromic patient had a definitive diagnosis. The sequential genetic assessment diagnosed 14 out of 42 (33.3%) tall patients.ConclusionA systematic molecular approach of patients with tall stature was able to identify the etiology in 13 out of 30 (43.3%) syndromic and 1 out of 12 (8.3%) non-syndromic patients, contributing to the genetic counseling and avoiding unfavorable outcomes in the syndromic subgroup.

01 Jan 2020·Molecular Genetics & Genomic MedicineQ4 · MEDICINE

Unexpected phenotype in a frameshift mutation of PTCH1

Q4 · MEDICINE

ArticleOA

Author: Silipigni, Rosamaria ; Prada, Elisabetta ; Milani, Donatella ; Tolva, Gianluca ; Scuvera, Giulietta ; Bulfamante, Gaetano ; Gervasini, Cristina ; Marchisio, Paola ; Beltrami, Benedetta ; Graziani, Daniela

AbstractBackgroundGorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly, and dysmorphisms. BCNS is mainly caused by mutations in PTCH1, an onco‐suppressor gene that maps at 9q22.3 region. A disease related to BCNS is the 9q22.3 microdeletion syndrome. This condition has an overlapping clinical phenotype with the BCNS, but it can present in addition: metopic craniosynostosis, overgrowth, obstructive hydrocephalus, developmental delay, intellectual disability, and seizures. This syndrome is caused by the deletion of a genomic region containing the PTCH1 and the FANCC.Methods and ResultsWe report the case of an 11‐year‐old girl that came to our attention for overgrowth, dysmorphic features of the face, and craniosynostosis, but with a normal intellectual and motor development. At first we performed an array‐comparative genomic hybridization (aCGH) analysis. The analysis showed no copy number changes. Then, we performed the analysis of the PTCH1 by next‐generation sequencing. This analysis showed a heterozygous frameshift mutation.ConclusionThis is the first case with a PTCH1 point mutation with a 9q22.3 microdeletion syndrome phenotype. This finding may strengthen the importance of the role of the PTCH1, especially regarding the metopic craniosynostosis.

01 Nov 2019·Journal of Pediatric Hematology/OncologyQ4 · MEDICINE

Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature

Q4 · MEDICINE

Review

Author: Nightingale, Michael ; Cayrol, Julie ; Heloury, Yves ; Challis, Jacqueline ; Sullivan, Michael ; Campbell, Martin

Background:The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Although the 9q22.3 syndrome is associated with Wilms tumor (WT), WT is not a GS-associated tumor, implying a different mechanism involving PTCH1, or a different locus in the 9q22.3 region. The goal of this study is to report the association between WT and 9q22.3 syndrome and review the outcome of treatment.Observations:We report 2 new cases of WT with 9q22.3 deletion and review the literature. Among the 44 described patients with 9q22.3 deletion, 7 developed WT (16%) at a mean age of 45 months (range, 4 to 84 mo). All patients had dysmorphic features, macrocephaly, and developmental delay, and there was an association with overgrowth (4/7). One patient had bilateral WT, another had a synchronous rhabdomyosarcoma. The outcome was excellent with all cases reported to be in complete remission.Conclusions:The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.

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9q22.3 Microdeletion

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