De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome
| Autor: | Kirsten Wølch Rasmussen, Michael B. Petersen, Malene Lundsgaard, Hans Christian Laugaard-Jacobsen, Anja Ernst, Inge Søkilde Pedersen, Vang Quy Le |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics medicine.diagnostic_test Nonsense mutation Biology medicine.disease Blepharophimosis PTPN11 03 medical and health sciences 030104 developmental biology Ptosis Mutation (genetic algorithm) Journal Article medicine Young–Simpson syndrome medicine.symptom Genetics (clinical) Exome sequencing Genetic testing |
| Zdroj: | Lundsgaard, M, Le, V Q, Ernst, A, Laugaard-Jacobsen, H C, Rasmussen, K, Pedersen, I S & Petersen, M B 2017, ' De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome ', Molecular Syndromology, vol. 8, no. 1, pp. 24-29 . https://doi.org/10.1159/000452258 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000452258 |
| Popis: | Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay. Previous genetic testing (array-CGH, 22q11 deletion, PTPN11 and MLL2 mutation analysis) gave normal results. We performed whole-exome sequencing (WES) and identified a heterozygous nonsense mutation in the KAT6B gene, NM_001256468.1: c.4943C>G (p.S1648*). The mutation led to a premature stop codon and occurred de novo. KAT6B sequence variants have previously been identified in patients with SBBYSS, and the phenotype of the girl is similar to other patients diagnosed with SBBYSS. This case report provides additional evidence for the correlation between the KAT6B mutation and SBBYSS. If a patient is suspected of having a blepharophimosis syndrome or SBBYSS, we recommend sequencing the KAT6B gene. This is a further example showing that WES can assist diagnosis. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|