IMBICE   05372
INSTITUTO MULTIDISCIPLINARIO DE BIOLOGIA CELULAR
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Neu-Laxova syndrome (NLS) and congenital anomalies of the spectrum of this syndrome in a highly inbred family. Could these anomalies represent clinicalmanifestations in heterozygotes?
Autor/es:
CAVALCANTI D, SAKATA MT, POLETTA F, LOPEZ CAMELO J, ROSENBERG C, CASTILLA EE.
Lugar:
Montreal
Reunión:
Congreso; 12th International Congress of Human Genetics / 61st Annual Meeting of the American Society of Human Genetics.; 2012
Institución organizadora:
International Congress of Human Genetics
Resumen:
TheNeu-Laxova syndrome (NLS) is a lethal rare genetic disease described in 66 probands, with an excess of females (23¡á : 37¡â). Of the 52 familieswith at least one affected, 23 referred parental consanguinity and recurrence occurred in 20, strongly suggesting recessive autosomal inheritance. Fromthe clinical point of view this syndrome presents a great heterogeneity and is characterized by IUGR, microcephaly, ocular proptosis or ablepharon,structural anomalies of hands and feet, oedema and ichthyosis. The aim of this report is to present a large and highly inbred family living in a Brazilian rural region with around 2,000 inhabitants that seems a population isolate.In this family we found one proband with an unusual phenotype and several other individuals affected by apparently isolated congenital anomalies fromthe spectrum of NLS. The proband´s parents are once removed cousins with the following obstetric history: GVIIPIVAIII, being GII a male infant thatpresented, hydrocephalus, congenital heart defect, club feet and neonatal death; GV was the proband; GVI and GVII normal children; GI, GIII e GIVwere spontaneous abortions. The proband presented generalized oedema, ichthyosiform skin, craniorrachischisis and anomalies of hands and feet.Karyotype (46,XX) and CGH-a were both normal. In other family individuals we found four hydrocephalus, five spine bifid and six ichthyosis. All, exceptone case of spine bifid, had consanguineous parents. The only individual alivewith spine bifid has also palpebral ptosis and ichthyosis. The full geneal-ogy shows 809 individuals in seven generations with a mean inbreeding coefficient F=0.008. The simple segregation analysis included the AR inheri-tance model (p=16.9 IC=7.9-25.9). In conclusion, these data suggest the possibility of clinicalmanifestation in heterozygotes for this syndrome. Futurestudies could confirm this hypothesis and hopefully will lead to identify the molecular basis of the NLS. (Supported by: INAGEMP - Instituto Nacional de Gen¨¦tica M¨¦dica Populacional