Mortality in Patients with 22q11.2 Rearrangements.

Autor: Cilio Arroyuelo M; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain., Tenorio-Castano J; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., García-Moya LF; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Parra A; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Cazalla M; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Gallego N; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Miranda L; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain., Mori MÁ; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., García-Gueretta L; Department of Pediatric Cardiology, Hospital Universitario La Paz, 28046 Madrid, Spain., Labrandero C; Department of Pediatric Cardiology, Hospital Universitario La Paz, 28046 Madrid, Spain., Mansilla E; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Rikeros E; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain., García-Santiago F; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Vallcorba I; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Arias P; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Silván C; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Deiros Bronte L; Department of Pediatric Cardiology, Hospital Universitario La Paz, 28046 Madrid, Spain., Nevado J; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium., Lapunzina P; Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, INGEMM-IdIPAZ, 28046 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, 28029 Madrid, Spain.; European Reference Network, ITHACA, 1070 Brussels, Belgium.
Jazyk: angličtina
Zdroj: Genes [Genes (Basel)] 2024 Aug 30; Vol. 15 (9). Date of Electronic Publication: 2024 Aug 30.
DOI: 10.3390/genes15091146
Abstrakt: The 22q11.2 region is highly susceptible to genomic rearrangements leading to multiple genomic disorders, including 22q11.2 microdeletion syndrome (22q11.2 DS) (MIM# 188400), 22q11.2 microduplication syndrome (MIM# 608363), supernumerary der(22)t(11;22) syndrome (also known as Emanuel Syndrome; MIM# 609029), and Cat Eye Syndrome (MIM# 115470). In this study, we present data on causes of mortality, average age of death, and the existing associated risk factors in patients with 22q11.2 rearrangements. Our cohort included 223 patients (120 males and 103 females) with confirmed diagnoses of 22q11.2 rearrangements diagnosed through molecular techniques (FISH, MLPA, and CMA). Relatives from patients who have been molecularly confirmed with 22q11.2 rearrangements have also been added to the study, regardless of the presence or absence of symptoms. Of these 223 individuals, 21 (9.4%) died. Deceased patients' rearrangements include 19 microdeletions, 1 microduplication, and 1 patient with a marker chromosome. The median age of death was 3 months and 18 days (ranging from 3 days to 34 years). There were 17 patients who died at pediatric age (80.95%), 3 died at adult age (14.28%), and for 1 of whom, the age of death is unknown (4.76%). Eighteen patients were White Mediterranean (European non-Finnish) (85.71%) whereas three were Amerindian (South American) (14.28%). Mortality from cardiac causes accounted for 71.42%. The second most frequent cause of death was sepsis in two patients (9.52%). One patient died from respiratory failure (4.76%) and one from renal failure (4.76%). Information regarding the cause of death was not available in two patients (9.52%). Most patients who died were diagnosed within the first week of life, the majority on the first day. This study adds additional information on mortality in one of the largest cohorts of patients with 22q11.2 rearrangements in more than 30 years of follow-up.
Databáze: MEDLINE
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