Shifting the Focus of Molecular Syndromology from Individual Diagnoses to Outcome Analyses

Poot, Martin

doi:10.1159/000531738

Cited by 1 publication

(1 citation statement)

References 19 publications

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“…With this report, we highlight the importance of the investigation of another gene locus in the patients with distinct disease phenotypes as well as overlapping disease phenotypes. In the study conducted by Posey et al [13] in 2017, multiple genetic loci were detected in 4.9% of the cases in which WES was performed [13,14].…”

Section: Introductionmentioning

confidence: 98%

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome

Yalçın,

Cinleti,

Yel

et al. 2024

Mol Syndromol

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Introduction: Nongoitrous congenital hypothyroidism-6 (CHNG6) is a thyroid hormone resistance syndrome caused by a thyroid hormone receptor alpha (THRA) gene mutation, characterized by tissue-specific hypothyroidism and near-normal thyroid function tests. Snijders Blok-Campeau syndrome (SNIBCPS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations in CHD3 genes, characterized by intellectual retardation, hypotonia, speech problems, and distinctive facial findings. Case Presentation: We report a 3-year-old dual phenotype Turkish girl with novel variants both in the THRA and CHD3 genes, presenting with developmental delay, hypotonia, and congenital hypothyroidism. Thyroid function values were consistent with the laboratory findings of CHNG6 disease: high free tri-iodothyronine (fT3) level, normal free thyroxine (fT4) value, and suppressed thyroid-stimulating hormone (TSH) values (under treatment). Molecular studies revealed a novel heterozygous missense c.802 G>A (p.Asp268Asn) variant in THRA that was inherited from her mother and a novel de novo heterozygous frameshift c.4364-4367 del (p.Tyr1455CysfsTer28) variant in CHD3. Discussion/Conclusion: In the literature, there is no case of CHNG6 and SNIBCPS co-existence. Although these are distinct diagnosis, we present this case due to the concomitance of these diseases.

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Section: Introductionmentioning

confidence: 98%