Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
Diagnostics (Basel)
; 12(5)2022 May 19.
Article
en En
| MEDLINE
| ID: mdl-35626423
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
País/Región como asunto:
Mexico
Idioma:
En
Revista:
Diagnostics (Basel)
Año:
2022
Tipo del documento:
Article
País de afiliación:
México
Pais de publicación:
CH
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SUIZA
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SUÍÇA
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SWITZERLAND