Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome
Por:
Fernández-Hernández L., Reyna-Fabián M.E., Alcántara-Ortigoza M.A., Aláez-Verson C., Flores-Lagunes L.L., Carrillo-Sánchez K., del Angel A.G.
Publicada:
1 ene 2022
Categoría:
Clinical biochemistry
Resumen:
We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease). Chromosomal microarray analysis was useful in identifying runs of homozygosity at 17q11.1–q21.33 and supporting the diagnosis of an underlying autosomal recessive condition. Sanger sequencing of NAGLU (17q21.2, MIM*609701) allowed us to identify a pathogenic homozygous p.(Arg234Cys) genotype. This NAGLU allele could be related to that previously described in an Iberian MPS IIIB founder haplotype; results from the polymorphic marker D17S800 and rs2071046 led us to hypothesize that it may have been introduced to Mexico through the Spanish settlement. The analysis of a clinical exome sequencing ruled out other monogenic etiologies for the previously undescribed clinical MPS IIIB manifestations. Our findings contribute to further delineating the MPS IIIB phenotype and suggest possible phenotype–genotype correlations. © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
Filiaciones:
Fernández-Hernández L.:
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Insurgentes Cuicuilco, Coyoacán, Mexico City, CP 04530, Mexico
Reyna-Fabián M.E.:
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Insurgentes Cuicuilco, Coyoacán, Mexico City, CP 04530, Mexico
Alcántara-Ortigoza M.A.:
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Insurgentes Cuicuilco, Coyoacán, Mexico City, CP 04530, Mexico
Aláez-Verson C.:
Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica (INMEGEN), Periférico Sur 4809, Arenal Tepepan, Tlalpan, Mexico City, CP 14610, Mexico
Flores-Lagunes L.L.:
Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica (INMEGEN), Periférico Sur 4809, Arenal Tepepan, Tlalpan, Mexico City, CP 14610, Mexico
Carrillo-Sánchez K.:
Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica (INMEGEN), Periférico Sur 4809, Arenal Tepepan, Tlalpan, Mexico City, CP 14610, Mexico
del Angel A.G.:
Laboratorio de Biología Molecular, Subdirección de Investigación Médica, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Insurgentes Cuicuilco, Coyoacán, Mexico City, CP 04530, Mexico
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