A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.
Eur J Hum Genet
; 14(8): 971-4, 2006 Aug.
Article
em En
| MEDLINE
| ID: mdl-16724010
ABSTRACT
Partial absence of the sacrum is a rare congenital defect that also occurs as an autosomal-dominant trait, whereas imperforate/ectopic anus is a relatively common malformation, usually observed in multiple congenital anomalies syndromes. We report on a girl born to healthy consanguineous parents (first cousins once removed) with anal imperforation and associated rectovaginal fistula and partial sacral agenesis. Facial dysmorphism included a high forehead, epicanthic folds, downslanting palpebral fissures, hypertelorism and a depressed nasal root. Brain MRI showed a bilateral opercular dysplasia with a unilateral (right) pachygyria; MRI and X-ray imaging of the spine disclosed a tethered cord associated with partial sacral agenesis. She showed a moderate developmental delay. Ophthalmologic examination evidenced bilateral microphthalmos and relative microcornea. Cytogenetic studies in our patient disclosed a pure de novo 6q25.3 --> qter deletion. By genotype analysis, we detected in our patient a maternal allele loss encompassing D6S363 and D6S446. Pure distal 6q deletion is a rare anomaly, reported in association with sacral/anorectal malformations (sacral agenesis, anal imperforation/ectopia) and never with cortical dysplasia. Pooling deletion mapping information in patients with pure terminal and interstitial 6q deletion allowed us to define a critical region spanning 0.3 Mb between the markers D6S959 and D6S437 for sacral/anal malformations. We hypothesize that haploinsufficiency for a gene within the deleted region may impair normal development of caudal structures, possibly acting on the notochordal development. European Journal of Human Genetics (2006) 14, 971-974. doi10.1038/sj.ejhg.5201635; published online 17 May 2006.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anus Imperfurado
/
Sacro
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 6
/
Deleção Cromossômica
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article