Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature.

IF 0.4 Q4 PEDIATRICS Journal of pediatric genetics Pub Date : 2023-09-01 DOI:10.1055/s-0041-1726470
Marivi Cervera-Gaviria, Julia Enterría-Rosales, Juan José Juárez-Vignon-Whaley, Julián García-Sánchez, Rodrigo Treviño-Velasco, Jaime Cervera-Gaviria
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Abstract

Mutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn463Asp) and CMD with radiological brain anomalies as disseminated hyperintensity lesions and discrete generalized cortical atrophy. These findings have not been reported to the best of our knowledge in other patients with the same mutation. The mutation c.1387A > G, p.Asn463Asp in the FKRP gene has been described to have a founder effect in central Mexico, since all the patients described to date are of Hispanic origin. Therefore, we emphasize studying mutations in the FKRP gene in Hispanic pediatric patients with clinical suspicion of CMD. Clinical and molecular diagnosis of specific CMD subtypes is needed to help clarify the prognosis, management, and genetic counseling to the patient and families.

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FKRP墨西哥方正突变c.1387A > G引起的先天性肌营养不良患者的新型放射学脑异常:文献综述。
FKRP基因的突变导致严重形式的先天性肌肉营养不良症(CMD)和四肢带状肌肉营养不良症的表型。我们报告了一名墨西哥患者,其FKRP基因具有致病性纯合突变(c.1387A > G, p.Asn463Asp)和CMD,其放射学脑异常表现为弥散性高强度病变和离散性广泛性皮质萎缩。据我们所知,这些发现尚未在其他具有相同突变的患者中报道。据描述,FKRP基因中的c.1387A > G, p.Asn463Asp突变在墨西哥中部具有创始效应,因为迄今为止所描述的所有患者都是西班牙裔。因此,我们强调在临床怀疑患有CMD的西班牙裔儿科患者中研究FKRP基因突变。需要对特定CMD亚型进行临床和分子诊断,以帮助明确预后、管理以及对患者和家属的遗传咨询。
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期刊介绍: The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.
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