Oliver McFarlane syndrome and choroidal neovascularisation: a case report

Makuloluwa, Aruni Kumari; Dodeja, Rutika; Georgiou, Michalis; Gonzalez-Martin, J A; Hagan, Richard; Madhusudhan, Savita; Michaelides, Michel

doi:10.1080/13816810.2020.1783689

Cited by 6 publications

(3 citation statements)

References 25 publications

(32 reference statements)

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“…Although more than 30 cases of Oliver McFarlane syndrome have been published, only 1 case that was complicated by CNV has been reported in a 10-year-old female who was treated with a single intravitreal bevacizumab injection and then a single intravitreal ranibizumab injection for recurrence 2 years later 52. In this case, VA continued to be stable 6 years after the initial diagnosis.…”

Section: Resultsmentioning

confidence: 75%

Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Makuloluwa

Madhusudhan

2023

BMJ Open Ophth

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Section: Resultsmentioning

confidence: 75%

Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Makuloluwa

Madhusudhan

2023

BMJ Open Ophth

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“…To date, there are 83 pathogenic variants of the PNPLA6 gene according to the HGMD database, previous literature, and this report. They are summarized in Table 3 (Wu et al, 2021;Liu et al, 2020;Emekli et al, 2020;Sen et al, 2020;Makuloluwa et al, 2020). Of these, 25 variants (30.1%) were associated with Boucher-Neuhäuser syndrome, 13 variants (15.7%) with Oliver-McFarlane or Laurence-Moon syndrome, 8 (9.6%) variants with Gordon Holmes syndrome, and the rest with other diseases.…”

Section: Discussionmentioning

confidence: 99%

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome

Liu²,

Liu

et al. 2022

Front. Genet.

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Background: Boucher–Neuhäuser syndrome (BNS, MIM 215470) is a rare autosomal recessive syndrome caused by mutations in the PNPLA6 gene. Few BNS cases have been reported for functional validation at the RNA level. Herein, we report on the family of a 17-year-old girl with clinical characteristics of BNS, genetic validation, and a systematic review of PNPLA6 variants related to BNS.Methods: Clinical data and blood samples were collected from the patient and their parents, and whole-exome sequencing was performed and confirmed by Sanger sequencing. RNA-sequencing (RNA-Seq) and quantitative RT-PCR (qRT-PCR) were performed, and the three-dimensional protein structures of the variants were predicted.Results: We report a 17-year-old female with progressive night blindness since the age of four, primary amenorrhea, and non-development of secondary sexual characteristics. Her impaired vision was diagnosed as retinal pigmentary degeneration of the retina. She had congenital hypogonadotropic hypogonadism (CHH) but no cerebellar ataxia at present. Two novel compound heterozygous variants (c.2241del/p.Met748TrpfsTer65 and c.2986A>G/p.Thr996Ala) of the PNPLA6 gene (NM_006702.4) were identified by whole-exome sequencing. The former variant was carried from her healthy father and has not been reported previously. The latter was inherited from her healthy mother and was noted in a report without functional studies. The RT-PCR results showed that the mRNA expression of PNPLA6 was lower in this patient and her father than in the control group. She was diagnosed with BNS. Both variants (c.2241del and c.2986A>G) were likely pathogenic according to the ACMG criteria. The novel variants in the PNPLA6 gene related to Boucher–Neuhäuser syndrome were summarized in this article.Conclusion: The possibility of Boucher–Neuhäuser syndrome should be considered when patients present with night blindness, impaired vision, and hypogonadotropic hypogonadism. Gene sequencing is currently the primary diagnostic method. Herein, novel compound heterozygous variants of PNPLA6 were identified in a BNS patient, and its function was verified at the RNA level. The PNPLA6 c.2241del variant is novel and potentially pathogenic, expanding the mutation spectrum in PNPLA6.

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“…Later it became evident that orthologues of sws have similar role in the nervous system of vertebrates [7,[16][17][18][19]. Compound heterozygous or homozygous recessive mutations in human sws orthologue called PNPLA6 induce neurological abnormalities, affecting spinal cord [19][20][21], cerebellum [22][23][24][25][26][27][28][29][30][31][32][33][34][35][36], pituitary gland [24,26,31,37,38] and photoreceptor neurons [33,36,[38][39][40]. Furthermore, in mammals PNPLA6 is maintained because of its vital role in placenta development, so knockouts are lethal [41,42].…”

Section: Introductionmentioning

confidence: 99%

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

Melentev

Sharapenkov

Surina

et al. 2021

Insects

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Drosophila melanogaster is one of the most famous insects in biological research. It is widely used to analyse functions of different genes. The phosphatidylcholine lysophospholipase gene swiss cheese was initially shown to be important in the fruit fly nervous system. However, the role of this gene in non-nervous cell types has not been elucidated yet, and the evolutional explanation for the conservation of its function remains elusive. In this study, we analyse expression pattern and some aspects of the role of the swiss cheese gene in the fitness of Drosophila melanogaster. We describe the spatiotemporal expression of swiss cheese throughout the fly development and analyse the survival and productivity of swiss cheese mutants. We found swiss cheese to be expressed in salivary glands, midgut, Malpighian tubes, adipocytes, and male reproductive system. Dysfunction of swiss cheese results in severe pupae and imago lethality and decline of fertility, which is impressive in males. The latter is accompanied with abnormalities of male locomotor activity and courtship behaviour, accumulation of lipid droplets in testis cyst cells and decrease in spermatozoa motility. These results suggest that normal swiss cheese is important for Drosophila melanogaster fitness due to its necessity for both specimen survival and their reproductive success.

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Oliver McFarlane syndrome and choroidal neovascularisation: a case report

Cited by 6 publications

References 25 publications

Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher–Neuhäuser Syndrome

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

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