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Article

A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.

Journal of medical case reports - 2 May 2026

Mir Atefeh, Abbasi Zahra, Song Yongjun, Lee Hane, Khajeh Ali, Jahantigh Mojdeh, Hajigholami Samira, Khedri Shadi, Tabatabaiefar Mohammad-Amin

Abstract excerpt

BACKGROUND: Cornelia de Lange syndrome is a rare congenital disorder marked by considerable clinical variability, including intellectual disability, growth retardation, distinctive facial features, limb abnormalities, and multisystem involvement. The condition is primarily linked to mutations in genes encoding components of the cohesin complex that are essential for chromosomal stability and gene regulation. We...

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Identifiers

PMID: 42069659
DOI: 10.1186/s13256-026-05973-5
PMCID: PMC13285449

Genes

NIPBL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.PMID 42069659Read ↗

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A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.Semantic proximity Read ↗

[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].Semantic proximity Read ↗

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.Semantic proximity Read ↗

A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.Semantic proximity Read ↗

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