Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
CAKUT
MAPKAPK5 gene
MK5 developmental disorder
ambiguous genitalia
congenital heart defects
nails dysplasia
olfactory bulbs
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
08 2022
08 2022
Historique:
revised:
08
05
2022
received:
08
03
2022
accepted:
11
05
2022
pubmed:
17
5
2022
medline:
9
7
2022
entrez:
16
5
2022
Statut:
ppublish
Résumé
This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome to date observed in only other three children. This is the second report of biallelic mutations in MAPKAPK5 whose impairment during human development has been associated with neurological, cardiac, and facial anomalies combined with fingers and toes malformations. Through the affected patients' genetic and phenotypic features overlap, this report confirms MAPKAPK5 as causative gene and adds unique neurodevelopmental characterization. Moreover, based on the complex congenital genitourinary anomalies reported and MAPKAPK5 literature review, we also propose kidney and external genitalia involvement as a key syndromic feature whose expressivity may be more severe in males.
Identifiants
pubmed: 35575217
doi: 10.1111/cge.14150
pmc: PMC9545400
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
MAP-kinase-activated kinase 5
6YHG2VE3IX
Protein Serine-Threonine Kinases
EC 2.7.11.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
142-148Informations de copyright
© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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