Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Daiju Oba, Mariko Sagara, Sayuri Oda, Miyu Fukushima, Kenta Hasumi, Hirofumi Ohashi

Abstract read

In one paragraph

Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

6 authors.

Daiju ObaDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan. oba.daiju@saitama-pho.jp.ORCID http://orcid.org/0000-0002-8184-7742

Mariko SagaraDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

Sayuri OdaDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

Miyu FukushimaDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

Kenta HasumiDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

Hirofumi OhashiDivision of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here we report an 18-year-old male patient with bilateral ectopia lentis and biallelic CPAMD8 variants (NM_015692.5:c.[2801delG];[4552C>T]; NP_056507.3:p.[(Gly934GlufsTer64)];[(Gln1518Ter)]). He exhibited previously unreported extraocular features, including a slender build, scoliosis, arachnodactyly and positive thumb sign and wrist sign, which is reminiscent of Marfan syndrome. These findings may suggest that CPAMD8-related disorder is a syndromic condition associated with extraocular systemic features similar to those seen in Marfan syndrome.

Identifiers

PMID41145435

DOI10.1016/j.ajo.2021.11.014

PMCPMC12559352

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.