Variable expressivity of Malan syndrome.

Humans Male Megalencephaly / diagnosis Female Developmental Disabilities / genetics Frameshift Mutation NFI Transcription Factors / genetics Autistic Disorder / genetics Adult Child, Preschool
Genetics Pediatrics

Journal

BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291

Informations de publication

Date de publication:
17 Oct 2024
Historique:
medline: 18 10 2024
pubmed: 18 10 2024
entrez: 17 10 2024
Statut: epublish

Résumé

We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.34_41dupGGGATACC. The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted the variable expressivity of Malan syndrome.

Identifiants

DOI: 10.1136/bcr-2024-260787 PMID: 39419602
pubmed: 39419602
pii: 17/10/e260787
doi: 10.1136/bcr-2024-260787
pii:
doi:

Substances chimiques

NFI Transcription Factors 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Atanu Kumar Dutta (AK)

Biochemistry, All India Institute of Medical Sciences, Kalyani, Kalyani, West Bengal, India atanu.biochem@aiimskalyani.edu.in.
ORCID: 0000-0002-8413-3454

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Mégalencéphalie › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Incapacités de développement › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs nucléaires-I › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Troubles généralisés du développement de l'enfant › Trouble du spectre autistique › Trouble autistique › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Variable expressivity of Malan syndrome.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Variable expressivity of Malan syndrome.