TY - JOUR
T1 - Small nuclear ribonucleoprotein polypeptide N quantitative methylation analysis in infants with central hypotonia
AU - Nájera, Nayelli
AU - González, Lourdes
AU - Durand, Javier Pérez
AU - Ruíz, Elizabeth
AU - Garibay, Nayely
AU - Pastrana, Yadira
AU - Barragan, Eduardo
AU - Durán-R, Rosa Eréndira
AU - Queipo, Gloria
N1 - Funding Information:
is no conflict of interests Funding: This work was supported by the Research Division of the Hospital General de M é xico, DGAPA Universidad Nacional Aut ó noma de M é xico, grant number IN225706-3.
PY - 2011/8/1
Y1 - 2011/8/1
N2 - Central hypotonic is one of the most difficult issues in neurology, ruling out neurogenetic syndromic causes is critical, Prader-Willi syndrome (PWS) it is the most frequent genetic syndrome, it is caused by the loss of expression of the paternal allele in a group of imprinted genes within 15q11-q13, and is characterized by severe prenatal and postnatal hypotonia. SNURF-SNRPN gene methylation detects 99% of the cases but fluorescent in situ hybridization (FISH) analysis is necessary to confirm chromosome microdeletions. The advantage of SNRP-quantitative strategy of methylated alleles is that it makes it possible to make the diagnosis and identify deletions and mosaicism in one reaction. In infants clinical diagnosis is difficult. It has been proposed that around 40% of hypotonic patients have PWS but an accurate percentage has not been established. Twenty-four central hypotonic infants were studied by this molecular strategy, showing 41.5% with the disease. This molecular approach also permitted calculation of gene dosage and detection of those cases with microdeletion.
AB - Central hypotonic is one of the most difficult issues in neurology, ruling out neurogenetic syndromic causes is critical, Prader-Willi syndrome (PWS) it is the most frequent genetic syndrome, it is caused by the loss of expression of the paternal allele in a group of imprinted genes within 15q11-q13, and is characterized by severe prenatal and postnatal hypotonia. SNURF-SNRPN gene methylation detects 99% of the cases but fluorescent in situ hybridization (FISH) analysis is necessary to confirm chromosome microdeletions. The advantage of SNRP-quantitative strategy of methylated alleles is that it makes it possible to make the diagnosis and identify deletions and mosaicism in one reaction. In infants clinical diagnosis is difficult. It has been proposed that around 40% of hypotonic patients have PWS but an accurate percentage has not been established. Twenty-four central hypotonic infants were studied by this molecular strategy, showing 41.5% with the disease. This molecular approach also permitted calculation of gene dosage and detection of those cases with microdeletion.
KW - Prader-Willi syndrome
KW - SNURF-SNRPN gene methylation
KW - hypotonic infant
UR - http://www.scopus.com/inward/record.url?scp=80051994857&partnerID=8YFLogxK
U2 - 10.1515/JPEM.2011.163
DO - 10.1515/JPEM.2011.163
M3 - Artículo
SN - 0334-018X
VL - 24
SP - 595
EP - 598
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 7-8
ER -