First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of

Yanchuan Xie, Dongyan Li, Wensheng Li, Yingjie Tao, Li Tang, Liping Li, Guangda Li, Hongwei Jiang

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In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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8 authors.

Yanchuan XieCentral Laboratory, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0009-0005-4359-1060

Dongyan LiCentral Laboratory, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0009-0007-5483-1677

Wensheng LiDepartment of Hepatobiliary Surgery, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0009-0007-2914-3792

Yingjie TaoCentral Laboratory, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0009-0003-2765-7088

Li TangInstitute of Rare Diseases, West China Hospital, Sichuan University, Chengdu, China, scu.edu.cn.ORCID https://orcid.org/0009-0004-3707-1221

Liping LiHenan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0000-0001-7396-1310

Guangda LiSchool of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0000-0002-1211-1969

Hongwei JiangHenan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China, haust.edu.cn.ORCID https://orcid.org/0000-0003-3807-7989

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Cornelia de Lange syndrome (CdLS) currently has seven known causative genes, inherited in an autosomal or X-linked dominant pattern. Clinical features are variable, including dysmorphic facial features, intrauterine and/or postnatal growth retardation, multiple organ system malformations, and neurodevelopmental disorders. Type 4 of CdLS caused by Methods: Here, we report a pair of siblings from a Chinese family who both have similar dysmorphic facial features, cleft palate, spina bifida occulta, and limb phenotypes. Whole-genome sequencing (WGS) was performed to analyze the genetic basis of their condition. Gap-PCR was subsequently employed to map the breakpoints in the affected siblings' peripheral blood samples. Additionally, the copy number status of the parents and the father's sperm DNA were evaluated using Gap-PCR and digital PCR (dPCR). Results: Through WGS analysis, a heterozygous deletion was found in the 8q23.3-8q24.11 region of both patients, which includes the full-length Conclusions: We report a pair of siblings with a complete loss of

Indexed as

De Lange SyndromeDNA-Binding ProteinsMosaicismPhosphoproteinsSequence DeletionCell Cycle ProteinsFemaleGene DeletionHumansMalePedigreePhenotypeSiblingsWhole Genome SequencingCell Cycle ProteinsDNA-Binding ProteinsPhosphoproteinsRAD21 protein, humanCornelia de Lange syndromegenotype–phenotype correlationRAD21 mutationswhole-genome sequencing

Identifiers

PMID42719089

DOI10.1155/humu/5591607

PMCPMC13555280

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