Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
GLI3 gene
Pallister-Hall Syndrome
buccolingual frenulum
hypothalmic hamartoma
mesoaxial polydactyly
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
revised:
03
05
2023
received:
28
02
2023
accepted:
10
05
2023
pmc-release:
01
09
2024
medline:
21
8
2023
pubmed:
12
7
2023
entrez:
12
7
2023
Statut:
ppublish
Résumé
Two children are presented who have a distinct syndrome of multiple buccolingual frenula, a stiff and short fifth finger with small nails, a hypothalamic hamartoma, mild to moderate neurological impairment, and mild endocrinological symptoms. No variant assessed to be pathogenic or likely pathogenic was detected in the GLI3 gene in either child. This syndrome appears to be distinct from the inherited Pallister-Hall syndrome associated with GLI3 variants, which is characterized by hypothalamic hamartoma, mesoaxial polydactyly, and other anomalies. In the individuals described here, manifestations outside of the central nervous system were milder and the mesoaxial polydactyly, which is common in individuals with Pallister-Hall syndrome, was absent. Instead, these children had multiple buccolingual frenula together with the unusual appearance of the fifth digit. It remains unclear whether these two individuals represent a separate nosologic entity or if they represent a milder manifestation of one of the more severe syndromes associated with a hypothalamic hamartoma.
Identifiants
pubmed: 37435845
doi: 10.1002/ajmg.a.63306
pmc: PMC10524239
mid: NIHMS1902230
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2337-2343Subventions
Organisme : Intramural NIH HHS
ID : Z01 HG200328
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200328
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG200388
Pays : United States
Informations de copyright
© 2023 Wiley Periodicals LLC.
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