Novel mutation in TENM3 gene in an Iranian patient with Colobomatous Microphthalmia

Yarahmadi, Sepideh Gholami; Sarlaki, Fatemeh; Morovvai, Saeid

doi:10.22541/au.164301992.24701362/v1

Cited by 2 publications

(2 citation statements)

References 27 publications

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“…The main characteristic feature of this syndrome is eye involvement (15). All previously reported patients presented with moderate or severe eye abnormalities, including colobomatous microphthalmia, ocular coloboma, and cataract (9,13,14). The ocular features of patient 1 in our study are highly consistent with previous reports.…”

Section: Discussionsupporting

confidence: 91%

“…To date, only eight patients with recessive TENM3 variants have been described; information on the reported patients is shown in Table 1. The non-syndromic microphthalmia cases with recessive TENM3 variants only presented with moderate or severe eye abnormalities, including microphthalmia, microcornea, and retinal and iris coloboma, while TENM3 syndromic cases had additional abnormalities, such as craniofacial, renal, genital, cardiac, brain, and skeletal (9,13,14). To expand the TENM3 gene-related phenotypic spectrum, we describe the clinical features of two Chinese patients with compound heterozygous variants in TENM3.…”

Section: Discussionmentioning

confidence: 99%

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Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases

Zheng

et al. 2023

Front. Pediatr.

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Biallelic TENM3 variants were recently reported to cause non-syndromic microphthalmia with coloboma-9 (MCOPCB9) and microphthalmia and/or coloboma with developmental delay (MCOPS15). To date, only eight syndromic and non-syndromic microphthalmia cases with recessive TENM3 variants have been reported. Herein, we report two unrelated new cases with biallelic variants in TENM3, widening the molecular and clinical spectrum. Regarding patient 1, WES revealed compound heterozygous variants in the TENM3 gene: c.3847_3855del; p.Leu1283_Ser1285del and c.3698_3699insA; p.Thr1233Thrfs*20 in the index patient, who was presenting with bilateral microphthalmia, congenital cataract, microcephaly, and global developmental delay. Regarding patient 2, compound missense heterozygous variants in the TENM3 gene were identified: c.941C > T; p.Ala314Val and c.6464T > C; p.Leu2155Pro in the 3-year-old boy, who presented with congenital esotropia, speech delay, and motor developmental delay. The clinical features of these two cases revealed high concordance with the previously reported cases, including microphthalmia and developmental delay. The presence of microcephaly in our patient potentially expands the neurologic phenotype associated with loss of function variants in TENM3, as microcephaly has not previously been described. Furthermore, we present evidence that missense variants in TENM3 are associated with similar, but milder, ocular features.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases

Zheng

et al. 2023

Front. Pediatr.

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Trans-ancestral Genome Wide Association Study of Sporadic and Recurrent Miscarriage

Reynoso,

Nandakumar,

Shi

et al. 2024

Preprint

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Miscarriage is a common adverse pregnancy outcome, impacting approximately 15% of pregnancies. Herein, we present results of the largest trans-ancestral genome wide association study for miscarriage to date, based on 334,593 cases of sporadic, and 52,087 cases of recurrent miscarriage in the 23andMe, Inc. Research Cohort. We identified 10 novel genome-wide significant associations for sporadic miscarriage, and one for recurrent miscarriage. These loci mapped to genes with roles in neural development and telomere length, and to developmental disorders including autism spectrum disorder. Three variants, with similar directionality and magnitude of effect, replicated in a previously published GWAS. Using Mendelian randomization and triangulation, robust evidence was found for smoking causally increasing the risk of sporadic (genetic liability to ever vs never smoking: OR 1.13; 95%CI: 1.11-1.15; P=2.61e-42) and recurrent (OR 1.25; 95%CI: 1.21-1.30; P=5.47e-34) miscarriage, with moderate, yet triangulating, evidence identified for a potential etiological role of caffeine consumption.

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Novel mutation in TENM3 gene in an Iranian patient with Colobomatous Microphthalmia

Cited by 2 publications

References 27 publications

Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases

Case report: Expansion of phenotypic and genotypic data in TENM3-related syndrome: Report of two cases

Trans-ancestral Genome Wide Association Study of Sporadic and Recurrent Miscarriage

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