Maternal mosaicism for a missense variant in the
bilateral sensorineural hearing impairment
congenital hypothyroidism
defect in the atrial septum
hyperinsulinemic hypoglycemia
severe muscular hypotonia
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
01
07
2021
accepted:
30
09
2021
pubmed:
21
10
2021
medline:
13
1
2022
entrez:
20
10
2021
Statut:
epublish
Résumé
There is increasing recognition for the contribution of genetic mosaicism to human disease, particularly as high-throughput sequencing has enabled detection of sequence variants at very low allele frequencies. Here, we describe an infant male who presented at 9 mo of age with hypotonia, dysmorphic features, congenital heart disease, hyperinsulinemic hypoglycemia, hypothyroidism, and bilateral sensorineural hearing loss. Whole-genome sequencing of the proband and the parents uncovered an apparent de novo mutation in the X-linked
Identifiants
pubmed: 34667072
pii: mcs.a006122
doi: 10.1101/mcs.a006122
pmc: PMC8751409
pii:
doi:
Substances chimiques
Spermine Synthase
EC 2.5.1.22
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2021 Marhabaie et al.; Published by Cold Spring Harbor Laboratory Press.
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