Michaelis-Manz syndrome. A case report

Plaza-Ramos, P.; Barrio, L Tabuenca-Del; Zubicoa-Eneriz, A; Goldaracena-Tanco, B

doi:10.23938/assn.0377

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…The genetic changes caused by the pathogenesis of MC have not been studied well due to the low number of cases. Genetic studies have been carried out to investigate the causes of MC and simultaneous eye disease or systemic disease [ 4 , 5 , 6 ]. It was reported that BEST1 , RIMS1 , and CLDN19 , identified as hereditary retinal dysplasia and degeneration ( rdd ) phenotype-related genes, are related to MC [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

Zhang

Wang

et al. 2022

Cells

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Macular coloboma (MC) is a rare congenital retinochoroidal defect characterized by lesions of different sizes in the macular region. The pathological mechanism underlying congenital MC is unknown. Novel compound heterozygous variations, c.4301delA (p.Asp1434fs*3) and c.5255C>G (p.Ser1752Ter), in the multiple PDZ domain (MPDZ) proteins were identified via whole-exome analysis on the proband with isolated bilateral macular coloboma in a Chinese family. Segregation analysis revealed that each of the unaffected parents was heterozygous for one of the two variants. The results of the in silico and bioinformatics analysis were aligned with the experimental data. The knockdown of MPDZ in zebrafish caused a decrease in the ellipsoid zone, a destruction of the outer limiting membrane, and the subsequent RPE degeneration. Overall, the loss of MPDZ in zebrafish contributed to retinal development failure. These results indicate that MPDZ plays an essential role in the occurrence and maintenance of the macula, and the novel compound heterozygous variations were responsible for an autosomal recessive macular deficiency in this Chinese family.

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