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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet. Med. 23, 384–395 (2021)
Purpose We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Methods Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers. Results We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of missense and splice variants indicated that these have a deleterious effect. The main clinical findings comprised developmental delay and intellectual disability ranging from mild to severe. Autism spectrum disorder, muscle tone abnormalities, and macrocephaly were common as well as hearing impairment and gastrointestinal problems. Hypoplasia of the cerebellar vermis emerged as a consistent magnetic resonance image (MRI) finding. Females and males were equally affected. Using facial analysis technology, a recognizable facial gestalt was determined. Conclusion Our aggregated data illustrate the genotypic and phenotypic spectrum of X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Our cohort improves the understanding of disease related morbidity and allows us to propose detailed surveillance guidelines for affected individuals.
Impact Factor
Scopus SNIP
Altmetric
8.822
2.730
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Autism ; Developmental Delay ; Histone Acetylation ; Msl3 ; X-linked; Dosage Compensation; Transcriptional Regulation; Msl Complex; Acetylation; Mutations; Domain; Decay; Mof
Sprache
englisch
Veröffentlichungsjahr
2021
Prepublished im Jahr
2020
HGF-Berichtsjahr
2020
ISSN (print) / ISBN
1530-0366
e-ISSN
1098-3600
Zeitschrift
Genetics in Medicine
Quellenangaben
Band: 23,
Seiten: 384–395
Verlag
Lippincott Williams & Wilkins
Verlagsort
Baltimore, Md.
Begutachtungsstatus
Peer reviewed
POF Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30205 - Bioengineering and Digital Health
30205 - Bioengineering and Digital Health
Forschungsfeld(er)
Genetics and Epidemiology
PSP-Element(e)
G-500700-001
G-503200-001
G-503200-001
Förderungen
Duke University Health System
Progetto GENE (Genomic Analysis Evaluation Network)
Elterninitiative Kinderkrebsklinik e.V. (Dusseldorf)
German Research Foundation/Deutsche Forschungsgemeinschaft
Progetto GENE (Genomic Analysis Evaluation Network)
Elterninitiative Kinderkrebsklinik e.V. (Dusseldorf)
German Research Foundation/Deutsche Forschungsgemeinschaft
WOS ID
WOS:000588224500001
Scopus ID
85095780736
PubMed ID
33173220
Erfassungsdatum
2020-11-17