Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Amato, Maria Eugenia; Ricart, Sílvia; Vicente, María Asunción; Martorell, L.; Armstrong, Judith; Isern, Guerau Fernández; Mascaró, J. M.; Balsells, Sol; Alonso, I.; Serrano, Mercedes; Ortigoza‐Escobar, Juan Darío

doi:10.1002/ccr3.7275

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“…Another case report described developmental delay, and hearing loss in a patient with 3M syndrome due to co-existence variants in CUL7 and ILDR1 gene ( 16 ). Also, Amato et al reported a case of Angelman syndrome (5,5 Mb deletion of 15q11.2–q13.1) with a coexisting intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous) and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous) ( 17 ). This “double trouble” case illustrates the point that clinical findings in patients might not be explained by a single genetic defect, and consanguineous marriage increases the likelihood of coexistence of autosomal recessive diseases.…”

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confidence: 99%

“…Mb deletion of 15q11.2-q13.1) with a coexisting intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous) and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous)(17). This "double trouble" case illustrates the point that clinical findings in patients might not be explained by a single genetic defect, and consanguineous marriage increases the likelihood of coexistence of autosomal recessive diseases.…”

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confidence: 85%

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Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

Ceylan,

Tekdemir,

Kocak

et al. 2023

Front. Pediatr.

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The presence of two different genetic conditions in the same individual is possible, especially in populations with consanguinity. In this case report, we present the coexistence of Artemis deficiency (OMIM 602450) and Three M (3M) syndrome (OMIM 273750). A 10-months-old male patient with neuromotor developmental delay was evaluated for immunodeficiency due to recurrent respiratory infections diarrhea and oral moniliasis from the age of 1.5 months. He had facial dysmorphism with rotated ears, flat nose and hypertelorism. Neurological examination revealed generalized hypotonia and mental motor delay. Immunological screening of the patient demonstrated mild lymphopenia, hypogammaglobulinemia, reduced number of CD3+ T cells (980 cells/mm3) and CD19+ B cells (35 cells/mm3). He was diagnosed with leaky T−B−NK+ SCID. Exome sequence analysis showed the presence of a homozygous pathogenic DCLRE1C variant [c.194C > T; p.T65I (NM_001033855)] and a homozygous pathogenic variant in OBSL1, a gene associated with 3M syndrome [c.3922C > T; p.R1308X (NM_001173431)]. Our proband died of sepsis and multiple organ failure. This case illustrates that different clinical findings in patients might not be explained with a single genetic defect, and consanguinity increases the change for coexistence of autosomal recessive diseases. Clinicians should consider exome sequencing to identify disease-causing mutations in patients with heterogeneity of clinical findings.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 85%

Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

Ceylan,

Tekdemir,

Kocak

et al. 2023

Front. Pediatr.

View full text Add to dashboard Cite

show abstract

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Abstract: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations.

Cited by 1 publication

References 14 publications

Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders

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