Abstract Background Autoinflammation and phospholipase Cγ2‐associated antibody deficiency immune dysregulation ( APLAID ) is an exceedingly rare monogenic autoinflammatory disease. To date, only five cases have been reported with four distinct pathogenic mutations. Objectives We present a novel case of , corroborated by molecular analysis, newly described clinical findings including central nervous system vasculitis CNSV ); distinctive histopathological characteristics that may expand our...

Background: The importance of prebiotics consumption is increasing all over the world due to their beneficial effects on health. Production better from endemic plants raises possibilities enhance nutritional in vulnerable population groups. Fructans derived Agave Plant have demonstrated safety and efficacy as animal models. Recently, humans two fructans obtained tequilana (Metlin® Metlos®) was demonstrated. Methods: This study aimed demonstrate Metlin® Metlos® newborns a randomized, double...

Abstract The aim of this study was to improve knowledge the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample Mexican patients, given limited information available regarding disease Mexico and Latin America. Four different molecular techniques were implemented identify from single nucleotide variants large rearrangements TSC1 TSC2 genes 66 unrelated Mexican-descent patients that clinically fulfilled criteria for definitive TSC diagnosis. mutation detection rate 94%,...

Identify CTNS gene mutations in nephropathic cystinosis Mexican patients.Eleven patients were included, nine presenting infantile and two siblings with the juvenile phenotype. The common 57-kb deletion was detected by multiplex PCR using large marker-2 (LDM-2)/exon 4 set primers. Those alleles negative for screened single strand confirmation polymorphism (SSCP) subsequent direct sequencing.In our sample, five previously reported are identified: deletion, EX4_EX5del, c.985_986insA,...

Non‐syndromic cleft lip/palate ( NSCL / P ) is a common congenital defect in M exico. Periconceptional intake of folic acid FA may reduce the risk this malformation. Although 5,10‐methylenetetrahydrofolate reductase MTHFR enzyme participates folate metabolism, several studies failed to find any association between and C 677 T A 1298 polymorphisms. However, interactions among , gene polymorphisms, have not been explored exican populations. This case–control study included 132 patients with...

Germinal mosaicism should be considered when estimating the recurrence risk in families with Duchenne/Becker muscular dystrophy (D/BMD). mosaicism, however, has not been assessed Mexican deletions DMD gene. To determine distribution of two hot spots and proportion de novo transmitted deletions, we analyzed 153 individuals D/BMD a partial deletion 322 their maternal female relatives. Predilection for distal spot was observed 112 (73%), while gene dosage analysis relatives patients identified...

Nonsyndromic cleft lip with or without palate (NSCL/P) is a common craniofacial birth defect that has complex etiology. Genome-wide association studies have recently identified new loci associated NSCL/P, but these not been analyzed in Mexican Mestizo population. A etiology implies the presence of genetic interactions, there little available information regarding this and no signaling pathway clearly implicated humans. Here, we associations 24 single nucleotide polymorphisms (SNPs) NSCL/P...

Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This first study that examines mutational spectrum 25 unrelated Mexican MPSII families. The responsible genotype was identified 96% of families (24/25) with 10 novel variants: c.133G>C, c.1003C>T, c.1025A>C, c.463_464delinsCCGTATAGCTGG, c.754_767del, c.1132_1133del, c.1463del, c.508-1G>C, c.1006+1G>T and c.(-217_103del). Extensive gene deletions were four patients; using DNA microarray...

The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions responsiveness to tetrahydrobiopterin (BH4 ) never performed. We sequenced PAH determined geographic origin each allele, mini-haplotype associated, genotype-phenotype prediction BH4 48 Mexican patients. included 34 with c.60+5G>T being most...

Muenke syndrome (MS) is an autosomal dominant coronal craniosynostosis with variable extracranial anomalies. We studied 56 unrelated patients non‐syndromic uni‐ or bicoronal craniosynostosi to identify the frequency and clinical characteristics of MS in a cohort Mexican childrens. The FGFR3 pathogenic variation p.Pro250Arg responsible for was characterized all probands by PCR‐restriction assay; available first‐degree relatives (15 parents, 5 siblings) confirmed carriers were also tested. All...

A ~3-kb deletion-type DNA copy-number variation (CNV, esv3587290) located at intron 7 of the VANGL1 gene (1p13.1, MIM*610132) has been proposed as a genetic factor for developing lupus nephritis (LN) in adult systemic erythematosus (SLE) patients across European-descent populations, but its replication other ethnicities inconsistent and association with LN childhood-onset SLE (cSLE) remains unknown. Here, we performed an exploratory study sample 66 unrelated cSLE Mexican (11 males, 55...

A ~3-kb deletion-type DNA copy-number variation (CNV, esv3587290) located at intron 7 of the VANGL1 gene (1p13.1, MIM*610132) has been proposed as a genetic factor for developing lupus nephritis (LN) in adult systemic erythematosus (SLE) patients across European-descent populations, but its replication other ethnicities inconsistent and association with LN childhood-onset SLE (cSLE) remains unknown. Here, we performed an exploratory study sample 66 unrelated cSLE Mexican (11 males, 55...

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked type of mental retardation resulting from hindered thyroid hormone access to neurons. Clustered nonrecurrent deletions SLC16A2 exon 1 have been described in three patients with AHDS. We report a fourth patient such deletion and discuss possible mechanisms leading these rearrangements.A three-and-a-half-year-old male clinical biochemical AHDS phenotype history normal neonatal screening for hypothyroidism underwent molecular analysis....

Objective To use the results of first five years a cystic fibrosis newborn screening program to estimate birth prevalence and spectrum transmembrane conductance regulator ( CFTR) gene variants in Yucatan, Mexico. Methods Screening was performed from 2010 2015, using two-tier immunoreactive trypsinogen testing, followed by sweat test. When test values were >30 mmol/L, CFTR analyzed. Results Of 96,071 newborns screened, second sample requested 119 cases. A 30 newborns, 9 possible cases...

The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated male patients (73% pediatric age) with clinical suspicion no evidence DMD gene deletion on multiplex polymerase chain reaction (mPCR) analysis were analyzed by ligation-dependent probe amplification (MLPA). Those a normal result subjected to Sanger sequencing or next-generation for plus 10 selected LGMD-related genes. We achieved...

Abstract Background Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack enough knowledge on natural history. Herein, we describe early course underlying GDPD genotypes in infants with G6PDd detected by later studied single follow-up center. newborns were categorized into three groups: group 1: hospitalized or without neonatal jaundice (NNJ); 2:...

Establishing the genotypes of patients with hyperphenylalaninemia (HPA)/phenylketonuria (PKU, MIM#261600) has been considered a cornerstone for rational medical management. However, knowledge phenylalanine hydroxylase gene (PAH) mutational spectrum in Latin American populations is still limited. Herein, we aim to update PAH largest cohort HPA/PKU Mexican (N = 124) reported date. The biallelic genotype was investigated by Sanger automated sequencing, and were correlated documented biochemical...

Thiopurine S-methyltransferase (TPMT) is involved in the toxicity and therapeutic efficacy of thiopurine drugs, its gene exhibits genetic polymorphisms that differ across diverse populations. Four TPMT (TPMT*2, *3A, *3B *3C) account for 80-95% alleles cause reduced enzyme activity. To date, only a single study Mexican population involving 108 individuals has been performed, but regional ethnic origin this was not described. Accordingly, information about polymorphism limited.To determine...