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From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
Am J Med Genet A. 2021 08; 185(8):2325-2334.AJ

Abstract

Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to evaluate the detailed clinical and dysmorphic features of seven WARBM1 patients and overview the variant spectrum of RAB3GAP1 in comparison with the literature who were referred due to congenital cataracts. A previously reported homozygous variant (c.2187_2188delGAinsCT) was identified in three of these patients, while the other four had three novel variants (c.251_258delAGAA, c.2606+1G>A, and c.2861_2862dupGC). Congenital cataract and corpus callosum hypo/agenesia are pathognomonic for WARBM, which could be distinguished from other similar syndromes with additional typical dysmorphic facial features. Although there is no known phenotype and genotype correlation in any type of WARBM, RAB3GAP1 gene analysis should be previously requested as the first step of genetic diagnosis in clinically suspicious patients when it is not possible to request a multi-gene panel.

Authors+Show Affiliations

Department of Pediatric Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.Department of Pediatric Genetics, Marmara University, İstanbul, Turkey. Faculty of Medicine, Eastern Mediterranean University, Mersin, Turkey.Department of Pediatric Genetics, Marmara University, İstanbul, Turkey.Department of Medical Genetics, Pamukkale University, Denizli, Turkey.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

33951304

Citation

Mutlu Albayrak, Hatice, et al. "From Cataract to Syndrome Diagnosis: Revaluation of Warburg-Micro Syndrome Type 1 Patients." American Journal of Medical Genetics. Part A, vol. 185, no. 8, 2021, pp. 2325-2334.
Mutlu Albayrak H, Elçioğlu NH, Yeter B, et al. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients. Am J Med Genet A. 2021;185(8):2325-2334.
Mutlu Albayrak, H., Elçioğlu, N. H., Yeter, B., & Karaer, K. (2021). From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients. American Journal of Medical Genetics. Part A, 185(8), 2325-2334. https://doi.org/10.1002/ajmg.a.62234
Mutlu Albayrak H, et al. From Cataract to Syndrome Diagnosis: Revaluation of Warburg-Micro Syndrome Type 1 Patients. Am J Med Genet A. 2021;185(8):2325-2334. PubMed PMID: 33951304.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients. AU - Mutlu Albayrak,Hatice, AU - Elçioğlu,Nursel H, AU - Yeter,Burcu, AU - Karaer,Kadri, Y1 - 2021/05/05/ PY - 2021/04/06/revised PY - 2020/12/24/received PY - 2021/04/15/accepted PY - 2021/5/6/pubmed PY - 2022/1/13/medline PY - 2021/5/5/entrez KW - RAB3GAP1 KW - Warburg-Micro syndrome KW - congenital cataract KW - corpus callosum hypo/agenesia SP - 2325 EP - 2334 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 185 IS - 8 N2 - Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to evaluate the detailed clinical and dysmorphic features of seven WARBM1 patients and overview the variant spectrum of RAB3GAP1 in comparison with the literature who were referred due to congenital cataracts. A previously reported homozygous variant (c.2187_2188delGAinsCT) was identified in three of these patients, while the other four had three novel variants (c.251_258delAGAA, c.2606+1G>A, and c.2861_2862dupGC). Congenital cataract and corpus callosum hypo/agenesia are pathognomonic for WARBM, which could be distinguished from other similar syndromes with additional typical dysmorphic facial features. Although there is no known phenotype and genotype correlation in any type of WARBM, RAB3GAP1 gene analysis should be previously requested as the first step of genetic diagnosis in clinically suspicious patients when it is not possible to request a multi-gene panel. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/33951304/From_cataract_to_syndrome_diagnosis:_Revaluation_of_Warburg_Micro_syndrome_Type_1_patients_ L2 - https://doi.org/10.1002/ajmg.a.62234 DB - PRIME DP - Unbound Medicine ER -