This study investigated the genetic etiology of A/M‐associated CNVs and found that genotype–phenotype correlations and reduced penetrance contribute to uncertainty in the interpretation of copy number variations in A/M.
Abstract
Anophthalmia/microphthalmia (A/M) is a severe congenital ocular malformation characterized by the complete absence or small size of the eye bulb. Interpreting copy number variations (CNVs) in A/M is challenged by variable genotype–phenotype correlations and reduced penetrance. This study investigated the genetic etiology of A/M‐associated CNVs.
The clinical response to the MEK inhibitor selumetinib, including regression of subcutaneous nodules, with no significant improvement in cutaneous neurofibroma scores was observed, is described.
Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.
D. Muhmann, G. Haliloglu, M. A. Grimalt et al.· European Journal of Neurolog...· 0 citations
Axenfeld-Rieger syndrome (ARS) is a rare genetic disorder characterised by a broad phenotypic spectrum and variable expressivity with characteristic ocular anterior segment dysgenesis, glaucoma and systemic manifestations. ARS is primarily associated with pathogenic variants in FOXC1 and PITX2, which both exhibit autos...
T. K. Nøhr, D. Larsen, M. Stougaard et al.· BMJ Case Reports· 0 citations
Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterised by variable expressivity. It is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, or POLR1B genes. Common clinical features include hypoplasia of the zygomatic complex and mandible, downward‐slanting palpebral fissures, lower eyelid...
Patracia Nevondwe, M. Mudau, Heather Seymour et al.· Molecular Genetics & Genomic...· 0 citations
To report CPAMD8 variants identified by whole‐exome sequencing (WES) in two Chinese families presenting with congenital cataract or pathologic myopia (PM) and to evaluate the evidence supporting their genotype–phenotype relationships.
Qiu Xie, Qiao Wang, Ya-Nan Liu et al.· Molecular Genetics & Genomic...· 0 citations
Deep phenotyping and genotyping of Pakistani multiplex families with either MCPH or Seckel syndrome found additional heterozygous modifier variants in WDR62, CEP63, RAD50 and PCNT —genes already known to be associated with neurological disorders.
Ehtisham Ul, Haq Makhdoom, S. S. Waseem et al.· 0 citations
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