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CASE REPORT article

Front. Genet.

Sec. Genetics of Common and Rare Diseases

Co-occurring DMD, GJA1, and Novel FYCO1 Variants in a Proband from a Consanguineous Oculodentodigital Dysplasia Family: A Rare Multilocus Case Report

Provisionally accepted
Kondyarpu AbhishekKondyarpu Abhishek1Nitish Kumar MohantaNitish Kumar Mohanta1Joseph JohnJoseph John2Swarupa PandaSwarupa Panda3Amit Kumar SatpathyAmit Kumar Satpathy2Roma RattanRoma Rattan4,5Ramchander Venkat PuppalaRamchander Venkat Puppala1*
  • 1Institute of Life Sciences (ILS), Bhubaneswar, India
  • 2Department of Pediatrics, All India Institute of Medical Sciences Bhubaneswar, Bhubaneswar, India
  • 3Department of Pediatrics, SCB Medical College & Hospital, Cuttack, India
  • 4Department of Biochemistry, SCB Medical College & Hospital, Cuttack, India
  • 5Directorate of Medical Education and Training (Jt. DMET), Bhubaneswar, Odisha, India, Bhubaneswar, India

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Whole exome sequencing of the proband and family revealed multilocus pathogenic variants (MGVs) leading to multiple genetic diagnoses (MGDs), explaining the complex phenotype with neuromuscular, ocular, and craniofacial abnormalities. The proband harboured a de novo hemizygous DMD frameshift variant consistent with Duchenne muscular dystrophy, a paternally inherited heterozygous GJA1 in-frame indel associated with oculodentodigital dysplasia (ODDD), and a novel homozygous FYCO1 nonsense variant causing congenital cataract. Fraction of ROH (FROH) analyses indicated extended autozygosity, suggestive of second-cousin-level consanguinity. The novel FYCO1 variant was located within one of the indicative ROH, supporting identity-by-descent. Structural analysis predicted truncating or domain-disrupting effects across all three genes, aligning with the multisystem phenotype. The coexistence of DMD, GJA1, and novel FYCO1 variants in a single individual is exceptionally rare. To our knowledge, this represents the first report of such a multilocus combination, highlighting the diagnostic complexity of combined recessive, dominant, and de novo events in a proband born in a consanguineous ODDD family.

Keywords: Consanguinity, DMD, Duchenne muscular dystrophy, FYCO1, GJA1, Multilocus Inheritance, Oculodentodigital dysplasia, Trio exome sequencing

Received: 24 Nov 2025; Accepted: 12 Feb 2026.

Copyright: © 2026 Abhishek, Mohanta, John, Panda, Satpathy, Rattan and Puppala. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Ramchander Venkat Puppala

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