التفاصيل البيبلوغرافية
| العنوان: |
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature. |
| المؤلفون: |
Yahalom, Claudia, Woods, Russell L, Akula, James D, Tan, Wen-Hann, Fulton, Anne |
| المصدر: |
Ophthalmic Genetics; Dec2023, Vol. 44 Issue 6, p585-590, 6p |
| مصطلحات موضوعية: |
LITERATURE reviews, MICROCEPHALY, VISION disorders, TETRALOGY of Fallot, DEVELOPMENTAL delay, LOW vision |
| مستخلص: |
Microcephaly and chorioretinopathy (MCCRP) is a rare autosomal recessive (AR) disorder characterized by microcephaly, developmental delay, chorioretinopathy, and visual impairment. We characterized the long-term phenotype of an additional patient with MCCRP associated with TUBCGP4 pathogenic variants and analysed previously reported cases in the literature. Analysis of clinical and genetic data of a patient with TUBGCP4-related MCCRP followed for more than 19 years and literature search for previously reported patients with TUBCGP4 variants using PubMed, Scopus, and Google Scholar. Molecular diagnosis using exome sequencing demonstrated two TUBCGP4 variants in trans: c.1669C>T (p.Arg557*) and c.1746 G>T (p.Leu582=). Clinical characteristics included microcephaly, microphthalmia, punched-out chorioretinal lesions, vision impairment, nystagmus, Tetralogy of Fallot and neurodevelopmental delay. Another six previously reported cases of TUBCGP4-related MCCRP were identified. Their clinical and genetic characteristics are compared. TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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