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akaturk Akademik ölçüm
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Makale detayı · 2014

Genetic heterogeneity in Cornelia de Lange syndrome CdLS and CdLS like phenotypes with observed and predicted levels of mosaicism

Dergi

Journal of Medical Genetics

ISSN 0022-2593

YÖKSİS OpenAlex Açık erişim · hybrid SJR Q1 JCR Q1 Atıf 172 Üst %10 Yüzdelik 97.8% FWCI 6.84
Yıl
2014
DOI
10.1136/jmedgenet-2014-102573
Tür
article

Veri kaynağı ayrımı

  • YÖKSİS YÖKSİS makale kaydı
  • YÖKSİS dergi adı Journal of Medical Genetics
  • Katalog eşleşmesi (ISSN) Journal of Medical Genetics
  • OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)

OpenAlex kaydı

Özet

OpenAlex · İngilizce

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS. METHODS: We screened 163 affected individuals for coding region mutations in the known genes, 90 for genomic rearrangements, 19 for deep intronic variants in NIPBL and 5 had whole-exome sequencing. RESULTS: Pathogenic mutations [including mosaic changes] were identified in: NIPBL 46 [3] (28.2%); SMC1A 5 [1] (3.1%); SMC3 5 [1] (3.1%); HDAC8 6 [0] (3.6%) and RAD21 1 [0] (0.6%). One individual had a de novo 1.3 Mb deletion of 1p36.3. Another had a 520 kb duplication of 12q13.13 encompassing ESPL1, encoding separase, an enzyme that cleaves the cohesin ring. Three de novo mutations were identified in ANKRD11 demonstrating a phenotypic overlap with KBG syndrome. To estimate the number of undetected mosaic cases we used recursive partitioning to identify discriminating features in the NIPBL-positive subgroup. Filtering of the mutation-negative group on these features classified at least 18% as 'NIPBL-like'. A computer composition of the average face of this NIPBL-like subgroup was also more typical in appearance than that of all others in the mutation-negative group supporting the existence of undetected mosaic cases. CONCLUSIONS: Future diagnostic testing in 'mutation-negative' CdLS thus merits deeper sequencing of multiple DNA samples derived from different tissues.

Konular

Atıflar

OpenAlex cited_by_count. WoS veya Scopus atıf sayısı değildir; o kaynaklar için ayrı kolon yoktur.

172 atıf

OpenAlex cited_by_count (önbellek / veritabanı)

Yerel katalogda bu makaleye atıf yapan 5 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).

  1. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Atıf 160 · OpenAlex
  2. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes 2015 Atıf 160 · OpenAlex
  3. NEUROIMAGING AND CLINICAL CHARACTERIZATION OF SOTOS SYNDROME 2015 Atıf 160 · OpenAlex
  4. Cohesin complex-associated holoprosencephaly 2019 Atıf 65 · OpenAlex
  5. Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant 2025 Atıf 1 · OpenAlex

Yazarlar

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  2. Poke G.
  3. Ferry Q.
  4. Williamson K.
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  76. HÜLYA KAYSERİLİ KARABEY KOÇ ÜNİVERSİTESİ